Following their own search for information about 4H leukodystrophy and devastation over the lack of available treatments, two determined parents honor their daughter’s memory and start a foundation

When new parents June and Ron first brought their daughter Yael home from the hospital, they were excited, bleary-eyed, and wrapped up in newborn bliss. But only a few short weeks later, they became concerned about their daughter, who they lovingly called Yaya. Her physical development didn’t seem to align with the newborn milestones they learned about.

This began a months-long journey to a diagnosis for a rare genetic neurological disease without a cure. Find out how they advocated for their daughter in pursuit of diagnosis and care. In addition, learn how they now fight for other patients like her and families like theirs.

Pursuing a Diagnosis

Yaya’s road to a diagnosis began with her parents’ determination. “It took months just to convince our family physician to prescribe a brain MRI—or I should say, even a visit with the neurologist, much less a brain MRI. We had to really fight for a visit with the neurologist,” says Yaya’s father Ron.

At the time of the test, Yaya’s brain MRI read as normal. Plus, she still received a normal reading on a second scan six months later. Because doctors were not familiar with her rare disease, they couldn’t recognize the abnormalities. So they couldn’t land on a diagnosis that would explain the symptoms she experienced. By then, Yaya had failed a swallow study and needed a feeding tube. It took seven months, a hospitalization, and a surgery for Yaya to receive whole-exome sequencing. A month later, at eight months old, Yaya finally received a diagnosis: hypomyelination with hypogonadotropic hypogonadism and hypodontia. The common name for this is 4H leukodystrophy, or Polr3-related leukodystrophy.

But even with a diagnosis, June and Ron had as many questions as they had answers. “It was hard for doctors to tell us what they meant, frankly,” says Ron. “We had a terrific care team. [But] our geneticists had never heard of 4H or POLR3.” When Yaya’s parents tried to search for more information about 4H leukodystrophy online, they couldn’t find any large organizations that provided resources, connected families, or supported research to better understand the disorder and develop treatments. They felt confused and alone.

A Family’s Journey With a Rare Brain Disease

Yaya’s geneticists passed along three medical journal articles on 4H. This left Ron and June trying to make sense of their daughter’s diagnosis and prognosis through medical literature. “What they told us was: There’s nothing we can do. There’s no medicine. There’s no therapy or treatment,” says Ron. “I don’t think either of us knew that that sort of case existed—that you get diagnosed with a disease, and then you just do nothing and you don’t know what’s going to happen. You wait for it to progress and just try to manage symptoms.”

Their geneticists were reputable and experienced. But Ron and June walked away from their initial meetings without an understanding of what Yaya’s care would look like. Nor did they know what type of care team needed to form. The conversations focused on symptoms to watch for years down the line and the need for an MRI each year. But June and Ron needed to know about symptom management and comfort care. “We increasingly found ourselves to be in a position where we had to educate the doctors in order to get the care that’s needed,” says June. Yaya was having difficulty swallowing, which was causing respiratory issues. Time felt precious and her needs were immediate.

One of the couple’s best friends, an ER doctor, managed to connect June and Ron with a doctor in Montreal. She was one of the few clinician-researchers studying this rare disease.

“One thing that she told us was there’s no norm of how this disease would progress,” says June. “You take 200 patients. They all have something different. But throughout that journey, there was no playbook that we could follow as parents of a young child with a rare disease.” Thankfully, June and Ron found they could lean on this doctor as a resource and advocate for Yaya.

Her support was important as Yaya’s disease progressed. Yaya’s presentation of the disease was aggressive, with symptoms beginning at a very young age and rapidly progressing from there. After a life of love and joy, Ron and June’s daughter passed away shortly after her first birthday.

Honoring Yaya

Following Yaya’s passing, her parents became determined to advocate for others with 4H leukodystrophy. To start, Ron and June reached out to a couple of other families touched by 4H. They also found some labs willing to submit research proposals to study the disease. But they quickly learned that it was necessary to first bring everyone together and share knowledge. In addition, it was important to create a community of collaboration centered on a common goal.

In 2018, they established the Yaya Foundation for 4H Leukodystrophy, an organization dedicated to supporting families and unlocking the mysteries of this rare disease through research. “We founded the only organization in the world that’s fighting for 4H leukodystrophy patients and families,” says Ron. In the process of obtaining seed funding and building a staff, the Yaya Foundation began to grow.

Lawyers by occupation, Ron and June run the Yaya Foundation as two parents dedicated to creating a community. They also help other families who face a similar situation to theirs. They work to provide educational and emotional support. These include resources for those with a loved one newly diagnosed with the disease. They do this because they don’t want others to feel as lost as they once did. “We’re really trying to find a way to build a community—a research community, care community, and a patient community to help our disease area,” says June.

June and Ron found other families like theirs through 4H-specific Facebook groups for parent-caregivers. They saw the incredible value in asking questions and getting answers from other people walking the same journey. Plus, they wanted to find a way to organize and share that information. Today, they host regular Zoom sessions attended by patients and families all over the world. During these calls, families connect with each other and, sometimes, disease experts. It is their hope that the Yaya Foundation offers parents support and reassurance that their child can have a wonderful life; that their family can build special memories together in spite of the disease; provides access to the specialized care that people affected by 4H need; and changes the world so that one day there will be transformational therapies available to people affected by 4H.

The Importance of Rare Disease Research

The other primary mission of the Yaya Foundation is to accelerate research and discover effective therapies for this rare disease. In bringing together a network of doctors, researchers, and other experts, even those outside the direct 4H community, Ron and June hope to create a knowledge base and push research forward.

“I think it’s so easy for all of us to put rare disease or neurological disease in a corner over there if we’re not affected by it,” says Ron. “What is easy to get lost is that rare diseases and rare neurological diseases are really not that rare… One in 10 Americans is affected by rare disease. When you extrapolate that to family members and loved ones, so many of us are affected by rare disease.”

Research specific to 4H is just beginning. But discoveries made for rare genetic diseases have the potential to advance therapies for other diseases as well. “You never know where that next great scientific discovery that is going to change the world could come from, and it could come from rare disease research and neurological disease research,” says Ron. For example, the success of gene therapy as a treatment for certain neurologic disorders is already helping determine current and future research for other similar diseases. Understandings gained from the study of one brain disease can unlock new paths to go down. In turn, they will lead to improved treatments, prevention, and cures for others.

“[It’s] just by some genetic twist that we each carry genetic differences that would lead to an autosomal recessive disorder. This could happen to anyone,” he says. “And so I think, one: Many of us are affected. Two: Any of us could be affected… Those who are fortunate to have not had their lives touched by rare disease or neurological disease are very fortunate to enjoy that luxury and have, I think, some obligation to support others who are not so fortunate.”

Especially in the area of rare diseases, there’s so much work to do. There is so much we still don’t know about the brain. But by studying all brain diseases and the connections between them, researchers are able to unlock insights that are wide-reaching and carry implications for multiple diseases—bringing us closer to cures.

The American Brain Foundation is committed to finding cures for all brain diseases and disorders that affect 1 in 6 people. Our whole-brain approach recognizes the interconnectedness of brain diseases and supports innovation through research by the best and brightest in the field of neurology. We know that when we cure one brain disease, whether prominent or rare, we will cure many. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Here’s how the latest research offers hope for the treatment of stroke, ALS/FTD, post-COVID conditions, and more.

Recent discoveries have given researchers new insights into how the brain works. Scientists are making a detailed atlas of brain cells and developing treatments for long-haul COVID. They examined the safety of a drug for stroke, and even grew “mini-brains” to help understand diseases of the nervous system. These studies don’t just help researchers investigate how the brain functions. They could also potentially translate into effective future treatment strategies.

NIH BRAIN Initiative Unveils Detailed Atlas of the Mammalian Primary Motor Cortex

The NIH BRAIN Initiative Cell Census Network has developed an atlas of the part of the brain that controls movement. The researchers cataloged cell types across the brains of mice, monkeys, and humans. While doing this, mapping their spatial relationships and creating genetic profiles. This groundbreaking study is the joint effort of more than 250 scientists across three continents. It could set the stage for a better understanding of brain function and how brain-based disorders, such as addiction, schizophrenia, and Alzheimer’s disease, develop. Learn more about the brain motor cortex map here.

New Research May Help People with Long-Haul COVID-19

Most people with COVID-19 recover within a few weeks. But about 10 to 30 percent of coronavirus patients find that post-COVID conditions continue to affect them months after infection. These include symptoms such as fatigue, brain fog, and other forms of cognitive dysfunction. While the exact cause of long-haul COVID-19 is not clear, researchers have developed several hypotheses. One is that the virus attacks through the olfactory bulb, a structure that transmits smell information to the brain, and prompts abnormal molecular mechanisms. Learn more about the potential causes of long COVID and treatment for different symptoms.

Clot-Busting Drug May Be Safe for People with Stroke and Unruptured Aneurysms

Thrombolytic or clot-busting drugs are often used to provide emergency treatment for stroke by breaking down the blood clot that’s restricting normal blood flow to the brain. But these clot-busting drugs are generally deemed risky for patients with an unruptured aneurysm. An aneurysm is a bulge in the wall of a blood vessel in the brain that can cause potentially fatal bleeding in the brain if ruptured. A recent study, however, shows that thrombolytic therapy may be safe for use. This finding may widen the use of clot-busting drugs to help prevent stroke-induced disability. But for people who have large aneurysms, additional consideration should be taken regarding treatment. Read more about this research on clot-busting drugs and stroke here.

Scientists Have Grown Tiny Brains to Cure a Deadly Neurological Disease

Researchers at the University of Cambridge are growing “mini-brains” that model brains with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases that often overlap. These organoids—pea-sized collections of brain cells that help scientists learn about full-grown human brains—were developed in previous studies, but this is the first time that scientists have grown them for almost a year. This study could help researchers understand the early development of the two connected nervous system disorders, providing hope for preventing or delaying disease progression in the future. Learn more about this new study and what it means for ALS/FTD treatment.

Discoveries open up novel opportunities to study different brain diseases from Alzheimer’s to Parkinson’s and more

There’s a lot of innovation at work in the field of brain disease research. It goes from algorithms to detect dementia symptoms and facilitate deep brain stimulation to unconventional treatments for people with ataxia. Studies and experimental therapies like these lay the groundwork for future discoveries and advancements. Read on to learn about these new findings and what they mean for the brain disease research going forward.

Time until dementia symptoms appear can be estimated via brain scan, featuring 2012 Next Generation Research Grant recipient Suzanne Schindler, MD, PhD

Researchers developed an algorithm to estimate when a person likely to get Alzheimer’s disease will start showing signs of dementia. They can detect this even when they have no symptoms of cognitive impairment. This algorithm uses data from amyloid positron emission tomography (PET), a type of brain scan. The PET scan allows physicians to identify the buildup of beta-amyloid plaques, which may be responsible for Alzheimer’s. Amyloid PET scans have been used before in Alzheimer’s research. But this new algorithm can estimate when cognitive decline appears, based on a person’s age and data from their PET scan. Learn more about this research from Dr. Schindler here.

AI Algorithm by Google, Mayo, Can Improve Brain Stimulation Devices

Mayo Clinic and the Google Research Brain Team have developed a new type of artificial intelligence (AI) algorithm that may widen treatment possibilities for neurological disorders, such as epilepsy and Parkinson’s disease. Brain network interactions are challenging to study due to complicated recorded signals and limitations of measurements. However, this AI algorithm provides a more direct interpretation of electrical brain stimulation data. Find out more about the algorithm and access the downloadable code package here.

A genetic brain disease reversed after birth

Kleefstra syndrome is a rare genetic disorder that involves development delay and intellectual disability. It happens when one copy of a gene called EHMT1 is mutated or missing. This leads to half the normal amount of GLP, a protein responsible for brain development. Using a mouse model, researchers have found a way to reverse this genetic brain disease after birth in mice by increasing the quantity of this protein in the brain. These studies have provided new information about the causes of this brain disease and have shown that a cure in humans may be a future possibility. Learn more about Keefstra syndrome and the research.

Theater Is Therapy for Patients with Ataxia

Can music and theater heal ataxia? New York movement disorder specialist Sheng-Han Kuo, MD, started an organization called Broadway for Ataxia that offers physical therapy—in the form of choreography and dialogue scenes from popular musicals—to mitigate ataxia. This disorder occurs due to damage to the cerebellum that leads to impaired coordination and speech. Researchers haven’t tested the effect of arts-based therapy on neurologic disorders, but Dr. Kuo is optimistic that the Broadway for Ataxia program may grow to help patients with Parkinson’s, dystonia, and cognitive disease in the future. Read more about Broadway for Ataxia’s theater-based therapy.

The American Brain Foundation believes that, one day, we can live in a reality without brain disease—and it all starts with funding research to discover cures. To support our work of connecting scientists with donors, make your gift today.

Experienced caregivers share support and advice that has helped them navigate caring for a family member with brain disease

Many people who care for a loved one with brain disease have taken on a new and unfamiliar role. Stepping into the role of a caregiver for the first time and managing everything that comes with it can feel unsettling, emotional, and even lonely. But if you’ve transitioned into a caregiver role, know that you’re not alone. Support from others can give you the strength and knowledge you need to navigate any challenges. We’ve rounded up practical advice and personal insights about being a caregiver from others who have been in your shoes. We hope these insights will help make your journey a little lighter.

What Advice Should a Caregiver Know?

Learning how to be a good caregiver for someone living with a brain disease like Lewy body dementia or Alzheimer’s or a brain tumor requires time, emotional strength, and confronting challenges as they arise. Here are seven tips from experienced caregivers.

Surround yourself with support

Caregiving can feel like a big responsibility, but it isn’t one you need to take on by yourself. Whether with friends and family or trained specialists, assembling a caregiving team will help you delegate some responsibilities. That ensures your loved one receives quality care. If you’re looking to bring in professionals, think about including in-home caregiving staff and physical, occupational, and speech therapists.

When Mary Jo moved home to become her parents’ caregiver, she worked closely with a personal family caregiving team and a couple of therapists. This support allowed her to continue her career while still being there for her parents. “Lourdes helps take care of my mother, and Ahmed helps take care of my father,” she says. “They have become a lifeline for me because I don’t have to stress out anymore about…the ups and downs of trying to find consistent good care.”

Play to your strengths

Everyone can contribute to caregiving by drawing on their unique strengths. Nancy, a caregiver to her father with Lewy body dementia, recognized how she and her sisters each took on a different role in caring for their father, based on their traits and experiences.

Nancy acted as the administrator, using her experience in government and nonprofit work to apply for medical assistance and complete paperwork. Her older sister offered her caring, sensitive nature and stayed by their father’s side to attend to his needs. Another sister, a therapist who works in rehabilitation with people with head injuries, understood medical language and wrote letters to their father’s doctors.

“I just learned that we all have our gifts, and that was my gift to be able to organize things and keep things in order,” Nancy says. “Even though I would like to be like my sisters, they’d probably like to be more like me. We’re all given gifts for a reason.” With Nancy acting as the hub, the sisters played to their strengths and worked together to care for their father.

Take time for yourself

Because caregiving can require extensive time, it’s easy for caregivers to dedicate their days completely to their loved one. But without carving out time to recharge, you won’t have the energy to help others. Your self-care is important too.

While caring for her father, Nancy tried to take one day each week for herself. On this day, she wouldn’t visit her parents and would focus on her own needs. She also made sure to plan a couple of much-needed vacations, trusting her father was in good hands while she was away.

Find a connection with your loved one

When a neurodegenerative disease progresses, it can affect things like personality, speech, and memory. The person you’re caring for may seem very different from the person they were before they experienced symptoms. But many caregivers have found simple ways to connect with their loved one. That can be through paging through old photos or reading familiar stories together.

Ken, whose father had a rare type of dementia called Pick’s disease, turned to music. When he was a child, Ken’s father would sing the songs of singer-songwriter Bobby Goldsboro. So he fell back on these familiar tunes to connect with his father. “He would look at me and make the connection that I was someone significant in his life,” says Ken. “Although he didn’t know my name and he didn’t know that I was his son, the music really bridged the gap.”

Cherish the memories

It can be difficult when your loved one is not able to recall precious events of the past or even their short-term memories. As a caregiver, you may have the responsibility of remembering the moments you have shared. Angela, whose husband, Matt, has had surgery to remove benign brain tumors called meningiomas, has been there.

“There have been some really sad moments where there are things that have been really, really important to me and he doesn’t remember them at all,” she says. “It’s just not there.” Although Angela grieves and adapts to the changes in Matt’s personality and memory, she also cherishes the memories they have made together and holds them in her heart. “We will have an experience and Matt won’t really remember it. I have to carry the memory of it,” she says.

Share your experience

As a writer, Nancy felt drawn to sharing her experience. But it didn’t happen right away. “It just takes a long time for your brain to process things and to grieve,” she says. Her resulting book, “Dancing with Lewy,” not only includes Nancy’s story but also several of her father’s poems, which give a first-hand perspective of the man he was.

You may or may not feel comfortable sharing your story, but many caregivers have discovered an extra layer of purpose and meaning in their experience when they talk about it with others. It provides an opportunity to convey the realities of caregiving and connect with people who understand and support them. That communication can take different forms and involve audiences large or small.

Ken, for example, created a YouTube channel to document time with his father. After losing his dad, Ken continued to share his father’s story to raise awareness about dementia, speaking up about caregiver burnout and the need for more research into brain diseases.

See a professional to help manage grief

Caregiving often involves a sense of loss and grief for the person you once knew as well as some heavy emotions that come with taking on a caregiver role. Mary Jo remembers being in “a very dark place”—unsure what to do, stressed beyond belief, and afraid of the future. She had so many questions: “Who’s going to be the power of attorney? Who’s going to talk to the doctors? Who’s going to make sure that my mom doesn’t walk out of the house in the middle of the night? Who’s going to make sure that my dad doesn’t fall?”

The loss of her mother’s friendship and knowing she can’t share in Mary Jo’s day-to-day life has been hard. “It’s devastating to have the one you love right there and you can’t even talk to her and tell her about your day,” Mary Jo says. She compares her time with her mother to caring for a child. “It hurts when I have friends who have so many great things that they do with their mothers… and I can’t. I’m just trying to keep her alive.”

Having a trusted professional to turn to can help you uncover and manage these very valid emotions. Support comes in many forms. So build your team, care for yourself, and share your experience. All of this can be done with a close circle of people, a therapist, or a large audience. You don’t have to go through this journey alone.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Here’s why we believe curing one brain disease will lead to curing others

For almost 30 years, the American Brain Foundation has invested in research across all brain diseases in pursuit of improved treatments, preventions, and cures. The brain is the most complex organ in the human body. It consists of distinct but connected parts, each with its own unique function. And just like the parts of the brain, the diseases that affect it are interconnected as well.

As Orly Avitzur, MD, MBA, FAAN, member of the American Brain Foundation board and President of the American Academy of Neurology, puts it, “The brain is a wondrous organ. It controls our language, our speech, our vision, our movement, our sensation, our coordination, and much, much more. It also houses our imagination and creativity, our thoughts, our dreams, and our hopes. And yet, it is susceptible to more than 600 brain diseases or disorders. The ABF motto, ‘Cure one, cure many,’ underscores its hope and my hope as well that one discovery will lead to more, and one treatment will be applicable or modified to treat multiple linked brain diseases.”

The Foundation funds research to actively study the connections across multiple brain diseases to unlock breakthroughs. Cure One, Cure Many highlights the understanding a cure for one brain disease will provide a better understanding of others. Ultimately, this will lead to more cures.

“We’ve learned that funding research across disease categories rather than for single diseases can lead to greater innovation and advances in treatment,” says David Dodick, MD, FAAN, Professor of Neurology at Mayo Clinic Arizona and Chair of the American Brain Foundation. Researchers in the field of neurology have found connections between many different brain diseases—and these understandings have already led to cures.

Here are some real-life examples of Cure One, Cure Many in action.

Connections Between Migraine and Epilepsy

While there are important differences between migraine and epilepsy, research has found connections between the two brain diseases. If a person has epilepsy, they are more than twice as likely to experience migraine compared with someone who doesn’t. People with migraine are more than twice as likely to have epilepsy compared to someone who doesn’t have migraine. Additionally, some medications used to treat epilepsy also work to prevent migraine attacks.

Both migraine attacks and epileptic seizures may be caused by abnormal electrical activity in the brain and can be preceded by auras. However, people with migraine who develop epilepsy typically have another risk factor, such as a head injury or stroke.

“The areas in neurology that I focused on during my career were migraine, stroke, and traumatic brain injury or concussion and each of those have been associated with white matter injury. And so it’s a perfect example of where three completely different diseases have perhaps an underlying shared biology,” says Dr. Dodick.

These connections mean a discovery in migraine could lead to improved treatments and preventions for epilepsy, and vice versa.

The Effects of Nervous System Inflammation Across Diseases

Inflammation is the body’s natural response to injury or illness. Neuroinflammation happens when an illness, injury, or other issue causes inflammation within the nervous system. Inflammation in the brain and spinal cord occur with many brain diseases and disorders, particularly autoimmune and degenerative ones.

High levels of neuroinflammation may accelerate brain aging and contribute to the progression of certain brain diseases. For example, it may be a major component of the symptoms and progression of Parkinson’s disease. And multiple sclerosis (MS) is also characterized by an inflammatory process along with the loss of the structure and function of neurons, known as neurodegeneration. Finally, research on brains affected by Alzheimer’s disease has shown that an increase in inflammation can also contribute to neurodegeneration.

Inflammation can also play a positive role in brain health. Whether neuroinflammation is beneficial or not depends on context, intensity, and duration. For example, if the brain experiences tragedy or trauma, an inflammatory response helps drive repair processes. It helps promote immune conditioning and neuroplasticity, which is the brain’s ability to alter connections, after an injury. But if the inflammation goes on for too long, it can cause damage.

Understanding neuroinflammation better can help researchers and doctors know where, when, and how to increase or decrease inflammation within the central nervous system. Being able to regulate inflammation in this way could lead to improved treatments for many different brain diseases.

Commonalities in Neurodegeneration Causes and Effects

Neurodegenerative diseases involve an often progressive decline of the nervous system. These diseases include Alzheimer’s disease and related dementias, Parkinson’s disease, and Lewy body dementia (LBD).

Emerging research is uncovering the causes of these diseases, including abnormal protein deposits and brain metabolism, brain cell death, and inflammation. “This new science is showing that not only are some of these mechanisms common to multiple brain diseases associated with aging but that they are also present in other disorders earlier in the lifespan,” says Frances Jensen, MD, FACP, FAAN, who is on the American Brain Foundation’s board of directors.

Neurodegenerative diseases like Alzheimer’s, Parkinson’s, and Lewy body dementia (LBD) share similarities and overlapping symptoms. So it can be difficult to accurately diagnose them. Accurate diagnostic tests for these diseases are essential to developing treatments. They can also help uncover a diagnostic test for one of them may help researchers better understand and treat others.

The search for a biomarker for LBD is also the priority area behind the American Brain Foundation’s 2022 Cure One, Cure Many Award. In partnership with the Alzheimer’s Association, The Michael J. Fox Foundation for Parkinson’s Research, and the American Academy of Neurology, the award seeks to attract the best minds in brain disease research to find a way to definitively diagnose LBD.

The similarities across these neurodegenerative diseases mean breakthroughs in one area can help diagnose, treat, and prevent others.

The Ripple Effect of Gene Therapy

Neurogenetic diseases are caused by a defect in one or more genes that affect the nervous system. These diseases include spinal muscular atrophy, early-onset muscle disorders, muscular dystrophies (such as Duchenne and LGMD), and others.

But now, some of these diseases have hope for a cure because of a research breakthrough in gene therapy. The work of 2019 Cure One, Cure Many Award recipient Jerry Mendell, MD highlighted this approach. Dr. Mendell’s research uncovered a one-time gene therapy treatment for type 1 spinal muscular atrophy—an otherwise fatal disease.

As the first gene therapy treatment approved for treating a neurogenetic disease, this discovery has paved the way for similar therapies for Duchenne and other types of muscular dystrophy. 2021 Next Generation Research Grant recipient Renatta Knox, MD, PhD, is building on this research to apply gene therapy to other nervous system diseases as well.

“I’m at a center which is actually harnessing the power of gene therapy, not just to treat one disease like spinal muscular atrophy but to treat many. I am working every day with scientists, clinicians, and families to be developing, translating this gene therapy approach again to diseases that affect the nervous system and other parts of the body,” says Dr. Knox.

This application to new disease areas underscores our core belief that if we cure one disease, we will cure many.

Cumulative and Collaborative Knowledge

The American Brain Foundation aims to maintain strong connections between different neuroscience research domains. After all, sharing knowledge can accelerate research projects beyond their original focus. “If your pathway or your drug might work something out with somewhere else, it’s important to find these collaborators to bridge those gaps across diseases or across different kinds of clinical areas,” says Alexander Gill, MD, PhD, a 2021 Next Generation Research Grant recipient studying MS.

Other Next Generation Research Grant recipients have grown their areas of study due to advances in neuroscience and medicine. Dr. Knox, for example, is studying gene therapy in neuromuscular disease. But some of the theory behind her project comes from another field entirely: cancer research.

“The molecules that we’re very excited to apply to the muscle disease that I study have actually been studied the most in cancer, and so we have this opportunity to do the literature and collaborations by actually being able to take advantage of some of the wealth of knowledge that’s coming from other fields as well,” says Dr. Knox.

We know that collaboration fosters innovation and helps researchers build bridges between different brain diseases. They can apply that knowledge across their area of focus. Then they can extend those learnings into new areas of brain disease research. These learnings are cumulative and their effects can be wide-reaching.

“Once you’ve developed a successful treatment, you can then adapt the technique to a related disorder that may be caused by a different gene or different abnormal protein,” says Wendy Yau, MD, 2021 Next Generation Research Grant recipient whose research in cognitive aging seeks to discover the connections between early vascular risk and white matter injury. “I think this is the beauty with research in science, is that knowledge is cumulative and collaborative, so I think this Cure One, Cure Many approach really takes advantage of that and will maximize the potential to advance the field of brain science.” 

Continued investment in research is needed to continue to study the brain. One day, they’ll uncover the connections that lead to cures for the 1 in 6 people diagnosed with brain disease.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Next Generation Research Grants fund the innovative research of early-career investigators, encouraging passion for research and laying the groundwork for future success. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

How brain disease research is improving our understanding of brain-body function and brain tissue inflammation, plus a heartbreaking look into life with a rare brain disease

Brain disease impacts so many aspects of so many lives. Thankfully, outstanding breakthroughs in the field of neurology are made every day, with more on the horizon. The NIH recently announced new projects to better understand brain-body function. In addition, researchers discovered information about the mechanisms causing Alzheimer’s that shows promise for the development of future treatments. Furthermore, a program supervised by the FDA allows patients with terminal illness to access experimental disease-modifying therapies. Finally, former NFL coach Tom Coughlin shares his wife’s struggle with a rare brain disorder and how it affects his caregiving. Continue reading to get the full stories.

NIH research projects on interoception to improve understanding of brain-body function

The National Institutes of Health is awarding seven projects that will address critical knowledge gaps and challenges in interoception. In order to gain a better understanding this process, which is the way organisms sense and regulate body signals. These projects will explore how dysfunctions in interoception may play an important role in neurological, psychiatric, and behavioral disorders. In time, we hope that one day it will lead us to develop better treatments for these conditions. The more we know about how the brain works, the closer we’ll get to finding cures for all brain diseases. Read more about the research being funded by this project.

How Patients with Terminal Illnesses Get Access to Experimental Drugs

Individuals experiencing terminal illness may be able to access experimental drugs under a program supervised by the US Food and Drug Administration (FDA) known as expanded access. This program, also called “compassionate use,” provides an avenue for patients with serious or life-threatening diseases who have no other treatment options to receive medication outside of a clinical trial that has yet to receive FDA approval. In some cases, patients may not meet criteria for participation in the trial or the trial may have already begun. Individuals must work with a doctor who is willing and able to pursue the process. They should also consider both the medical risks and financial considerations. Find out more about the expanded use program.

Human Study Suggests Brain Tissue Inflammation Is Key to Alzheimer’s Disease Progression

A study led by the University of Pittsburgh School of Medicine has identified neuroinflammation as a potential cause of cognitive impairment in people with Alzheimer’s disease. Neuroinflammation is an inflammatory response of the brain as well as spinal cord. For the first time, researchers have shown in living patients that neuroinflammation is not merely a consequence of disease progression. It is also a mechanism that contributes to the development of the disease. This means that targeting neuroinflammation might be beneficial for people with early-stage Alzheimer’s disease, even potentially helping reverse or slow down dementia. Learn more about this breakthrough discovery.

What is PSP? Former NY Giants coach reveals wife’s rare brain disorder

Former New York Giants coach Tom Coughlin revealed that his wife, Judy, suffers from progressive supranuclear palsy (PSP), a rare and incurable brain disorder that affects an individual’s speech, vision, balance, ability to walk, and movement. While describing her decline as “gut-wrenching,” Coughlin wrote about the all-consuming nature of caregiving. The article also explains what PSP is as well as its causes and prognosis. Discover the full story.


The American Brain Foundation believes that, one day, we can live in a reality without brain disease—and it all starts with funding research to discover cures. To support our work of connecting scientists with donors, make your gift today.

A young woman learns to navigate life as a caregiver for parents impacted by brain disease

With a large age gap between herself and her siblings, Mary Jo M. grew up almost like an only child in her loud, close-knit Italian family. She was close with both her parents and recalls her dad’s strong work ethic from his years of running a business in the meat-packing industry along with her mom’s caring personality and award-winning Italian frittatas. “I’ve looked up to [my dad] my entire life and my mom has been my rock,” Mary Jo says. “She’s gotten me through a lot of learning disabilities and fought for my education my entire life. So they’re my lifeline.”

But in Mary Jo’s early 30s, brain disease forever altered that relationship. Within just a few short years, her father suffered a subdural hematoma, was diagnosed with diabetic neuropathy, and experienced a stroke, and her mother was diagnosed with Alzheimer’s and dementia. Recently married and starting a new job across the country, Mary Jo had to put her dreams for her future on hold and adjust to being a caregiver for both of her parents.

The First Signs

The first signs of her father’s cognitive change are more apparent in hindsight. Mary Jo remembers her dad suffering some falls that the family initially wrote off as clumsiness. But one day, he started walking awkwardly. “He must have hit his head or fallen and hit his head. And we didn’t know. And he didn’t tell us,” says Mary Jo.

Her father asked to be taken to the hospital, where he was diagnosed with a subdural hematoma and rushed into surgery. “There was so much blood on his brain that it had shifted his brain in his skull,” says Mary Jo.

After a six-month stay at the hospital and a rehabilitation facility where he relearned how to talk, use his hands, and walk with only a bit of a lag on the left side, Mary Jo’s father was able to return home.

While her father went back to his daily life, about a year after his surgery, he began to experience more symptoms. When her father would stand up, his blood pressure would drop significantly. He would shake and turn white, sometimes even passing out. And it kept getting worse. “We didn’t know what was wrong. We kept on telling the doctor something is wrong. Something is wrong. Is it cancer? Is it Parkinson’s? What’s going on?” she says.

He received a diagnosis of diabetic neuropathy. “Diabetic neuropathy is when your nerve endings are just not speaking to each other anymore, so you can’t regulate your blood pressure. And now looking back… maybe those initial falls were the first signs of diabetic neuropathy really setting in,” says Mary Jo.

Within the past year, her father has also suffered a stroke. Again, he had to relearn everything he had regained after his traumatic brain injury—including speaking, walking, and swallowing.

Around the time of her father’s subdural hematoma, Mary Jo’s mother also started to show the first signs of cognitive decline. “It wasn’t really showing in big aspects outside of anger, social distancing herself, traditional beginning signs of dementia and Alzheimer’s,” says Mary Jo. But things got more serious one night when her mother was driving home from the hospital. What should have been a 10-minute drive within the suburbs turned into her mom getting lost and driving much further.

Choosing to Come Home

“I was on a train going back to New York City to Penn Station when I got the call from the doctor that, yes, it’s dementia and Alzheimer’s,” she says.

“I had a choice at that point to either stay in New York and continue to work with food manufacturing facilities… or to come back to Chicago and be with my family,” Mary Jo says. She started by taking six months off from work to figure out how to take care of her parents.

Mary Jo remembers being in “a very dark place”—unsure what to do, stressed beyond belief, and afraid of the future. She had so many questions: “Who’s going to be the power of attorney? Are they allowed to make decisions anymore for themselves? Who’s going to talk to the doctors? Because they’re not going to tell the doctors what’s going on. Who’s going to make sure that my mom doesn’t walk out of the house in the middle of the night? Who’s going to make sure that my dad doesn’t fall? All these things. ”

Ultimately, she moved home and became her parents’ caregiver, working closely with a personal family caregiving team and therapists. “There was a period of time where I was contemplating ending my career and taking care of my parents, which I know my parents would never want me to do,” she says. “They fought way too hard for me to give up everything I’ve fought so hard to get.”

How Life Has Changed

In only a few years, Mary Jo’s life turned upside down. The mother she grew up with is no longer there. As her Alzheimer’s has progressed, her mother is no longer able to do the things she used to love, such as cooking, ceramics, painting, or seeing the world. She is unable to have a meaningful conversation with her daughter, to offer her support, or to celebrate family milestones.

Mary Jo says, “It’s devastating to have the one you love right there and you can’t even talk to her and tell her about your day.” She compares her time with her mother to taking care of a small child. “It hurts when I have friends who have so many great things that they do with their mothers… and I can’t. I’m just trying to keep her alive.”

The loss of her mother’s friendship and knowing she can’t share in Mary Jo’s day-to-day life is hard. “And she’s there, right? She’s smiling, but you can’t talk to her,” she says. “And some days she doesn’t know your name and some days she might shove you or push you. And the anxiety worrying about her—people just don’t understand it until they live it.”

Mary Jo also feels a sense of loss in her dad slipping away. “You have to understand this guy came here when he was 12 years old from another country,” she says. “He has been the foundation and our head of the house, and to have that suddenly be in question as to what’s going on and what’s going to happen is completely devastating.”

Her parents, who always loved to travel, have lost the opportunity to see the world in the golden years of their life. They aren’t able to be an active part of their grandchildren’s lives, and Mary Jo relies on telling her children stories to communicate how amazing her parents truly are.

Now at 35 years old, she’s transitioned from the role of daughter to caregiver. “They’re a responsibility that I have to take care of as they have taken care of me. I owe it to them to be who they were for me,” she says.

Advocacy and Sharing Her Story

Mary Jo hopes that sharing her story will help others and give some meaning to what has happened to her family. “Sharing this experience…and the heartbreak that we’ve experienced, is important because not enough is known, and there are not enough advocates,” she says. “When people get dementia or Alzheimer’s or have a stroke, families go quiet. They don’t want to talk about it and they don’t want to live it in the open publicly.”

She also hopes to help others recognize the early signs of dementia. “I wish people understood that dementia and Alzheimer’s can start without you even realizing it,” Mary Jo says. “When people hear me talk about my parents, sometimes they recognize signs in their own parents, or in themselves. And because of that, they’re able to get the help that they need earlier, or do things to keep their brains healthy.”

The support of friends and family has helped Mary Jo through the challenges of caregiving. What has made the biggest impact? When other people simply listen and help when they can.

Importance of Research in Brain Disease

When she sees other families, Mary Jo finds herself thinking about how someday, so many people will be impacted by brain disease. “We all love our families and friends,” she says. “And by understanding how diseases work, and how we can maybe prevent them, we can improve the quality of life for millions of people.”

In the meantime, she holds onto the little moments that simultaneously uplift her spirits and break her heart. “It’s the joy in, ‘Oh my gosh, she remembered this! Can you believe it?’” Mary Jo says. “Or she’s saying these silly, funny things now that she never said before. It’s adorable, but at the same time, the only reason you’re getting that is because she’s cognitively fading. So it’s a heartbreaking kind of joy.”

Read another story about dementia from a caregiver’s perspective.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Relive an amazing night discussing the 2021 researchers and their Next Generation Research Grant projects

On Sept. 21, 2021, David Dodick, MD, FAAN, hosted the American Brain Foundation’s Next Generation of Brain Disease Research event: Meet the Researchers Working to Find the Cures of Tomorrow. During the event, we heard from a few recipients of our Next Generation Research Grants. We also learned about their research projects and what they hope to achieve. The event also had a live Q&A where viewers could ask the researchers questions about their work and about brain disease.

Read more about these research projects and watch the event recording below.

About Next Generation Research Grants

Through the Next Generation Research Grants, the American Brain Foundation funds and supports investigations by promising early-career clinician-scientists. Over the years, the program has provided a total of over 33 million dollars to more than 270 researchers. Of these, 86 percent have gone on to secure additional funding from the NIH and other funders to advance careers. These grants are helping fund research across the whole brain. We feel this is the best hope for finding better treatments, preventions, and cures for the brain diseases and disorders affecting 1 in 6 people worldwide.

Meet the 2021 Researchers

Jonathan Brent, MD, PhD — ALS

Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease that attacks the nerve cells responsible for voluntary movement. Dr. Brent’s research focuses on the mutations in KIF5A, a type of motor protein, that have been identified in individuals with ALS. Dr. Brent will study how these motor proteins function in neurons. He will also look at how and why mutations in these proteins may cause ALS. His research has the potential to impact how ALS is identified and treated. This could eventually lead to improved treatments and quality of life for people with this incurable disease.

“My hope is through the research that I’m pursuing now that we can lay the foundation for understanding how transport throughout different parts of neurons goes awry in the disease and how we can fix it,” says Dr. Brent.

Alexander Gill, MD, PhD — Multiple Sclerosis

Multiple sclerosis (MS) is an autoimmune and inflammatory disease that affects the brain and spinal cord. It involves unpredictable and disabling attacks. Dr. Gill’s research aims to identify new therapeutic targets for progressive forms of MS. Through mouse models, he will look at a specific protein called NLRX1 that can affect inflammation in the brain. He will also study the role this inflammation in the cells has in triggering and promoting disease progression in MS.

“It’s really my sincerest hope that these findings ultimately in the future motivate therapeutic trials in relapsing-remitting and progressive multiple sclerosis,” says Dr. Gill.

Renatta Knox, MD, PhD — Neuromuscular Disease

Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating and painful genetic disease that causes progressive muscle weakness of the face, arms, legs, and around the shoulders and chest. Dr. Knox’s research project builds on prior research in muscular dystrophy and examines a specific protein called DUX-4 as a potential cause of FSHD. This protein, when expressed incorrectly, is toxic to muscles. Her research will also examine gene therapy to potentially block the protein from being released.

“We are, as a field, developing therapies to suppress [the DUX-4] protein, but we do need to understand more about how it’s functioning to develop these types of innovative therapies that can actually modify, improve, and potentially cure the disease,” says Dr. Knox.

Ikjae Lee, MD — ALS

Researchers have learned that ALS patients use lipid oxidation as a fuel to generate energy more so than healthy individuals. In individuals with ALS, this change in the way the body breaks up lipids seems to start years before the first signs appear. Through his research, Dr. Lee seeks to identify indicators in the body’s metabolism that may predict which individuals will develop ALS. Hopefully, this will help us better understand why the disease progresses more quickly in some patients.

“I aim to study lipid changes in patients with ALS and also asymptomatic gene carriers by using a novel technique called the lipidomics… and this might help diagnose the disease earlier and also might lead to the development of new treatments,” says Dr. Lee.

Paul Sampognaro, MD — ALS

Typically, healthy cells have a process to degrade and recycle cellular waste. But in people with ALS and other neurodegenerative diseases like Alzheimer’s and Parkinson’s, unneeded abnormal proteins accumulate in the cells. Researchers still don’t understand why these proteins are accumulated and why the cells are not able to clear them out.  Dr. Sampognaro’s research will help to clarify this disease mechanism of ALS and identify new therapeutic targets for treatment.

“My work is investigating these really tiny pockets within cells, called lysosomes. Trying to figure out what’s going on under the hood to see if there’s not a drug target or an enzyme that we can identify that is capable of clearing out these proteins, and perhaps try to enhance their effect in the hopes of one day mitigating and… curing this disease,” says Dr. Sampognaro.

Samuel Terman, MD — Epilepsy

Epilepsy is a serious chronic neurological disorder characterized by recurrent seizures, which can be disabling. For most patients, medications can help control seizures. After a period of seizure control, over half of epilepsy patients can be seizure-free without medication. However, these drugs may also have downsides, including cost, side effects, and interactions with other medications. Dr. Terman will analyze trials to study the effect of stopping anti-seizure medications on the risk for relapse and create an individualized risk calculator. He hopes this will help people with epilepsy and physicians estimate the risks and benefits of continuing or stopping these medications.

“While choosing who to start treatment can be challenging, who to stop treatment can be even more challenging. My work focuses on one of the key ingredients in making a good decision, which is understanding the probability that a patient would have another seizure if they continued versus if they stopped,” says Dr. Terman.

Reem Waziry, MBBCh, MPH, PhD — Cognitive Aging

Cardiovascular disorders like stroke can cause permanent damage and require immediate medical care to increase patient outcomes. But cognitive age may also affect these outcomes. Dr. Waziry’s research focuses on developing biological age measurements through a routine blood test. He studies this factor in order to determine whether biological age can predict cognitive outcomes for stroke survivors. She believes it’s important to understand how aging biology relates to stroke and vascular dementia. Her project also aims to help researchers learn more about racial disparities in stroke risk and outcomes.

“I’m studying those aging metrics in people with stroke and I’m comparing them to healthy individuals to really try and identify a time window at which we can intervene for primary prevention and achieve this ultimate goal of aging free of stroke and cognitive impairment and vascular dementia,” says Dr. Waziry.

Wendy Yau, MD — Cognitive Aging

Vascular disease, which affects the body’s blood vessels, and Alzheimer’s disease, which causes a progressive decline in memory, thinking, and ability to do daily tasks, are the two most common changes affecting memory and cognitive ability as individuals age. Dr. Yau will study a group of older individuals who were cognitively normal at the start of the study. She will follow them as they age to determine their cardiovascular risk. The doctor will also see how their brains change over time. She will study whether brain changes that are indicators of Alzheimer’s disease, such as white matter health and accumulation of tau and amyloid proteins, affect their cognition. By discovering measurable diagnostic tests, she hopes to discover connections between early vascular risk and white matter injury. She believes finding this will slow the rate of cognitive decline and promote healthier brain aging.

“I hope to better understand at an early stage where people have no cognitive symptoms, how vascular risk and also risk disease pathology interact with each other and what brain changes are responsible for them working together versus separately to bring about cognitive decline,” says Dr. Yau.

Launching Lifelong Careers in Brain Disease Research

The live webinar concluded with a chance for researchers to answer questions and explain why they believe in the American Brain Foundation’s “Cure One, Cure Many” approach. Check out the full video for more from our 2021 class of Next Generation Research Grant recipients.

The American Brain Foundation relies on the support of donors and sponsors in order to fund these grants. Dr. Dodick says, “Many of these research projects are focused on disease areas where there is no treatment, there is no cure, and so this is desperately needed. Every dollar toward research counts, and only with the help of sponsors and supporters can we continue to fund this kind of research and make a life with no brain disease a reality.”

Donate to support more researchers like our NGRG recipients as they search for cures for brain disease.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Next Generation Research Grants fund the innovative research of early-career investigators, encouraging passion for research and laying the groundwork for future success. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

Neurologist Lisa M. Shulman, MD, FAAN, explains how tragedy affects the brain

In the recent American Brain Foundation webinar “Healing Your Brain After Loss: A Neurologist’s Perspective,” Lisa M. Shulman, MD, explains the effects of traumatic events, such as loss and personal tragedy, on the brain. Dr. Shulman is the director of the University of Maryland Parkinson’s Disease and Movement Disorders Center and is The Rosalyn Newman Distinguished Scholar in Parkinson’s Disease. She has also served as treasurer for the American Academy of Neurology as well as on their Board of Directors, and in 2018, received the President’s Award from the AAN for contributions to the Academy and the neurological profession. Discover the key learnings from the virtual event below.

The Brain’s Response to Grief

Grief comes in many forms. Whether brought on by the death of a loved one, a serious illness or injury, divorce, abuse, or another cause, the brain interprets grief as emotional trauma or PTSD. Dr. Shulman explains that the human brain handles emotional trauma and stress using the same set of processes.

“Traumatic loss is perceived as a threat to survival and defaults to protective survival and defense mechanisms,” says Dr. Shulman. This response engages the fight or flight mechanism, which increases blood pressure and heart rate and releases specific hormones. Grief and loss affect the brain and body in many different ways. They can cause changes in memory, behavior, sleep, and body function, affecting the immune system as well as the heart. It can also lead to cognitive effects, such as brain fog. The brain’s goal? Survival.

“Grief is a normal protective process,” says Dr. Shulman. “This process is an evolutionary adaptation to promote survival in the face of emotional trauma.” Changes in brain function go largely undetected when an individual continues functioning normally, but these experiences still affect how the brain works.

How Tragedy Affects the Brain

In response to traumatic events, the brain creates connections between nerves and strengthens or weakens existing connections depending on the duration and degree of the emotional response. Neuroplasticity, or the ability to alter neural connections, allows the brain to compensate for injury, illness, loss, and other life-altering traumatic events by forming new neural connections based on these experiences. This helps an individual adapt to new situations or environments.

Low to moderate stress increases nerve growth and improves memory while reducing fear. However, chronic stress causes a reduction in nerve growth and memory and increases fear to help an individual focus on survival. This stress response can have a negative effect and the more it happens, the more it becomes hardwired.

“When a circuit fires repeatedly,” Dr. Shulman says, “it’s reinforced and becomes a default setting.” Over the long term, grief can disrupt the diverse cognitive domains of memory, decision-making, visuospatial function, attention, word fluency, and the speed of information processing.

Healing the Brain After Loss

According to Dr. Shulman, even the effects of long-term chronic stress are reversible. She points to mindfulness and relaxation practices like journaling, cognitive behavior therapy, counseling, creativity, and meditation as outlets for post-traumatic growth. These strategies allow feelings of safety, security, and calmness to return so that one can move forward.

“If we don’t work through the traumatic experiences that we have, they will continue to be an obstacle in our lives,” says Dr. Shulman.

Learn more about how grief, loss, and tragedy affect the brain by watching the webinar or reading Dr. Shulman’s book, “Before and After Loss: A Neurologist’s Perspective on Loss, Grief and Our Brain.”

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Interested in more events? Check out our upcoming events and webinars.

After three craniotomies to remove benign brain tumors, this active photographer is navigating life with the help of his partner

A set photographer, avid cyclist, speed skating team member, and father of three, Matt was living a full, active life. But in 2010, he began having unusual episodes. The first one happened while he was out on one of his daily 20-mile bike rides.

“On that particular day… I started getting this incredible pulsing,” he says. “And then I got tunnel vision, where I could only see maybe 10 or 15 percent of what was directly in front of me and everything else was gray. And then it went away 20 minutes later.” While Matt thought it was odd, he chalked it up to making too much of a physical effort.

Tracking Symptoms

Then the episodes began happening more frequently. About once a week, Matt experienced a pulsing shadow on the left of his visual field that created an effect like a whirring ceiling fan with a light behind it. He kept notes about how often this would happen, the date, and how long it lasted. Initially, his general practitioner thought Matt might be having focal seizures or migraine symptoms.

“I finally got referred to a neurologist who said, ‘I wish all my patients were as good as you had been about keeping notes,’” says Matt. “Because he said, ‘Before I even send you in for an MRI, which I’m going to do, I can pretty much tell that you have a brain tumor.”

A Diagnosis and Treatment

While the news was scary, Matt was ready to face it head-on. “I had to put it in perspective and there was nothing I could do to change that directly,” he says. “There was no way to control it.”

Matt was officially diagnosed with meningiomas, which are tumors that grow from the membranes that surround the brain. While they are often benign, the growth of these tumors can put pressure on the brain. Thus they can cause symptoms and potentially affecting a person’s ability to work or function the way they normally would.

As an active person, Matt’s meningiomas impacted his daily life. “I was really angry,” he says. “Why should I get tumors? I eat healthy, I do everything healthy, I work out… I wanted to know why, and there is really no why. It happens.”

Over the past 11 years, Matt’s treatment has included three craniotomy operations to remove five tumors, as well as radiation and chemotherapy. The tumors were found to be pushing on his occipital lobe, the part of the brain that interprets vision, and his parietal lobe, which helps in spatial awareness and other important functions. Following the third surgery, Matt began experiencing more struggles in his daily life.

“About three months after my radiation treatments, I started losing my balance,” Matt says. “I started feeling dizzy all the time. And I wasn’t sure what it was because it came on over the course of two or three days. And I thought, ‘Well, I just have some kind of virus and it’s going to go away.’ But it never went away.”

None of Matt’s doctors can say whether his vertigo and balance issues are permanent. These symptoms not only make it tough for Matt to continue skating and cycling as he had previously but also affect his work as a photographer. It’s now two years after his last surgery, and Matt estimates that only about a third of what was affected has come back. So he’s learning to live with his brain disease and keeping a positive outlook.

Working in a Visual Career

In returning to work, Matt found ways to compensate for his visual difficulties. But one day while working on set during a fast-moving fight scene, he got into a scary situation. “Because of the way that I now see things post my last surgery, it’s hard for me to see someone over there and remember in fact that they’re over there when I’m looking back at something else,” he says. “I got in the way during one of the takes and I could have gotten hurt. I could have been knocked down, I could have had a blank shot at me.” Shaken after that incident, Matt was asked to take a break from work.

Matt’s partner Angela recognizes the physical demands of his job. “He’s cut back because he needs more downtime in between. It’s physically demanding, it’s mentally demanding. It’s visually demanding. And that’s exhausting for his brain to adapt to… He is working three times as hard as a neurotypical person.”

Matt is now in his 60s and his meningiomas have affected his timeline for retirement. “If I feel I can’t deliver or decide that I’m unable to deliver, then I’ll just hang the hat up at that time,” says Matt. “It’s made me probably speed up my retirement from the industry by, I would say, five years.”

Navigating a New World

Matt’s partner Angela provides support and care, but it can be tough navigating all of the obstacles brought on by his meningiomas. “It’s managing this long-term chronic condition that can change at any point,” she says. “Nothing is scheduled or predictable.”

Not only does she help Matt complete some daily tasks like filling out forms but Angela has also had to adjust to changes in his personality and memory. “There have been some really sad moments where there are things that have been really, really important to me and he doesn’t remember them at all,” she says. “It’s just not there.”

“Essentially you are your brain. And if your brain changes, you are completely different,” she explains. “The person that we knew… to a certain extent died on that operating table. And the person we got back looks exactly like that guy, with a lot more scar tissue on the back of his head. But it’s not the same person, and he is navigating a world that is very, very different.”

A Sense of Loss

Matt continues to do physical therapy to help with his sight and executive function. He has learned tools and strategies to navigate the day-to-day, knowing that his impediments are always there. Still, he continues to stay active in any way he can. However, everyday situations, like walking in a crowd or reading a book, can be difficult.

“It’s been tough for me to count on the way I have perceived things in the past and do it the same,” he says. “I have lost the vision on my whole left peripheral. So, unfortunately,—and this is a really sad part of it—I’m unable to drive, something I depend on… I’ve lost a fair amount of independence.”

Matt feels the greatest sense of loss is in his relationships with his children. “I think, whereas they saw me as the dad and strong and not damaged, now I’m not as strong,” he says. “They can’t count on me as much to help them do things.”

Angela feels these changes too: “Each of us exists within a fabric of interactions, and it’s like you pull one thread out and everybody has to adapt,” she says. “It has created a completely different dynamic because Matt has become more dependent on other people… And that can change on a daily or weekly basis.”

Support for Brain Disease Research

Matt continues to move forward, but he has concerns about developing more tumors in the future. With the scope of his surgeries, he may not be able to have additional operations. This could mean more radiation and less targeted treatments.

Due to their experience, both Matt and Angela recognize the need for brain disease research to make a difference for the individuals and families affected by brain disease. “It’s important to support people with brain disease because it could happen to anybody,” says Matt.

“And so it’s so important to do research on how the brain works, what treatments are effective,” Angela agrees. “There’s just so much we need to know…It’s so important for us to learn as much as we can about essentially the next frontier, which is in our own heads.”

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Next Generation Research Grants support research to discover an accurate method for diagnosing Lewy body dementia

Lewy body dementia (LBD) is a brain disease that causes a progressive decline in neurological function. It is the second most common type of dementia after Alzheimer’s disease. However there isn’t a diagnostic test to definitively identify LBD during an individual’s lifetime. So it’s something doctors easily miss or misdiagnose. We know little about the disease at a molecular level. Currently, the disease can only be diagnosed with certainty through a brain autopsy after death. But Next Generation Research Grant recipient Lenora Higginbotham, MD, hopes to change the future of Lewy body dementia diagnosis with her research.

Now a Senior Associate in Neurology at Emory University, Dr. Higginbotham is the recipient of a 2020 American Brain Foundation Next Generation Research Grant. In collaboration with the American Academy of Neurology, the American Brain Foundation offers grants to invest in new generations of clinical neuroscientists. Read on to learn about Dr. Higginbotham’s research and the impact discovering a diagnostic tool for LBD would have. We’ll also discuss how receiving a Next Generation Research Grant is helping to fuel her career.

Launching a Career in Lewy Body Dementia Research

Dr. Higginbotham is committed to clinical research in Lewy body diseases. These are degenerative diseases including dementia with Lewy bodies, Alzheimer’s, and Parkinson’s that all accumulate proteins in the brain. Her interest in neurology began shortly after she started medical school when her grandmother was diagnosed with Parkinson’s disease. The lab she joined introduced her not only to tools and data sets for researching Alzheimer’s disease but also to her mentors, Allan Levy, MD, PhD, and Nicholas Seyfried, PhD.

When she first worked in the lab during medical school, Dr. Higginbotham learned about using proteomics and mass spectrometry, both analytical tools, to compare the protein levels in Alzheimer’s disease brain tissue with those in healthy brain tissue. These tools group different proteins together and produce organized data sets. The tools help researchers identify similarities in the brain, blood, and cerebrospinal fluid.

Her goal is to identify a biomarker, or measurable substance, that will indicate LBD and provide a definitive diagnosis. Finding a biomarker will also help doctors apply appropriate treatment and monitor the disease’s progression. She has teamed up with a big proteomics lab responsible for Alzheimer’s research and is using their advanced techniques for detecting and analyzing protein levels to look at Lewy body dementia.

“I’m taking these tools that they have optimized… and looking at these networks and LBD and PDD [Parkinson’s disease dementia] and seeing what’s the same, what’s different, what the global pathophysiology looks like, where our biomarkers can intersect, where they can actually diverge,” explains Dr. Higginbotham.

The Importance of a Biomarker for Lewy Body Dementia Diagnosis and Treatment

Discovering LBD biomarkers would have significant benefits. Once it’s possible to identify with certainty which people have the disease, drawing comparisons between their profiles can ultimately lead to improved diagnosis, treatment, and ways to study the effectiveness of treatment.

“We have a diagnostic gap with Lewy body dementia,” says Dr. Higginbotham. “Having something that’s really accessible and can distinguish it easily and cost-effectively from Alzheimer’s would be really, really helpful.”

There is currently no treatment or therapeutics for LBD, especially for the cognitive symptoms that can often be so debilitating. “The big lovely idea, which I think is very reachable, is that we want this to translate into something for treatment,” says Dr. Higginbotham. By identifying biomarkers in the brain and diagnosing Lewy body dementia, doctors will be able to better develop individualized treatments, monitor disease progression, and determine the brain’s response to treatment.

The Ripple Effect of an LBD Diagnostic Test

Because of the similarities between them, research for other neurodegenerative diseases like Alzheimer’s and Parkinson’s can help researchers answer questions and find the biomarkers that distinguish these brain diseases. In this way, Dr. Higginbotham’s research has the potential to impact treatment and diagnosis for degenerative brain diseases beyond Lewy body dementia.

“There’s this growing knowledge that all of these neurodegenerative diseases actually overlap in pathophysiology a whole lot,” says Dr. Higginbotham. “And what we’re really trying to do with these big, global pictures of proteins is get not only at disease-level differences but also individual-level differences …that we can then use to, just frankly, individualize treatment for patients.”

While there is overlap between brain diseases, there are also differences among individual patients. As research continues to organize these complex data sets, Dr. Higginbotham believes they’ll see more and more subtypes. “We just want to make sure we get a diversity of people in research and a diversity of people who are engaged in research… to be able to really work toward defining all that overlap and all that individuality,” she says.

The Value of Early Career Grants

An opportunity like the Next Generation Research Grant uniquely supports researchers in the early part of their careers, helping grow promising ideas into groundbreaking data. “As physicians, clinicians, scientists, to do the actual research part, you’re expected to fund your salary. And a lot of times that can be difficult to do when you’re first coming out,” says Dr. Higginbotham. “This is why career development awards, like this grant from the American Academy of Neurology and the American Brain Foundation, are so important for people early in their careers.”

These initial research projects can also spark future initiatives. “I’ve already been able to generate a pilot data set and apply for a longer-term funding,” she says. “I wouldn’t have been able to have that protected research time without some sort of career development kickstart like the grants.”

At the American Brain Foundation, we recognize the overlap between brain diseases and the interconnections within the whole brain. We firmly believe that if we cure one brain disease, we can cure many. Learn more about our researchers’ efforts to discover diagnostic tests for neurodegenerative diseases like Alzheimer’s.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Next Generation Research Grants fund the innovative research of early-career investigators, encouraging passion for research and laying the groundwork for future success. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

Learn how we’re promoting equal access to diagnoses and treatments for brain diseases through our new healthcare disparities research fund

We believe that no one should have to suffer from the neurological diseases and disorders that affect one in six people worldwide. But brain disease disproportionately impacts certain populations in the U.S. That includes Black, Latino, Asian, Native American, LGBTQ+, those in lower socioeconomic groups, individuals living in underserved communities, and others. These same U.S. populations often experience a lack of basic access to healthcare and neurological care, along with other types of severe health disparities. They’re also underrepresented in brain disease research and careers in medicine. To address these issues, we established a new healthcare disparities research fund that will award grants in 2022. Read on to learn how these health equity grants have the potential to bring us closer to life without brain disease.

Next Generation Research Grant in Neurodisparities

Funded by the Hearst Foundation, Eisai Inc., and the American Brain Foundation in collaboration with the American Academy of Neurology, this $150,000 scholarship aims to reduce neurological healthcare disparities by fostering research to better understand:

  • How social determinants and bioscience influence brain health
  • The effect of disparities on neurological health
  • Potential interventions to address health disparities
  • How to integrate the impact of social determinants in clinical practice

This scholarship will also support the career development of clinician-scientists with emerging expertise in neurological healthcare disparities. This is a significantly understudied area. The application period for this grant is July 1 to October 1, 2021.

Seed Grant Funding to Promote Diversity, Equity, and Inclusion in Autism Research

The American Brain Foundation, in collaboration with the American Academy of Neurology, present a new seed grant for autism research. The pilot grant aims to provide up to $60,000 in seed funds for research. Its goal is to increase knowledge about autism spectrum disorder in excluded and underrepresented populations.

Autism spectrum disorder (ASD) is diagnosed in about one in every 54 children by the age of eight. It also occurs in all racial, ethnic, and socioeconomic groups. But autism research has largely focused on a relatively homogenous group of individuals, giving us an incomplete picture of the disorder and how it affects people across the racial, ethnic, socioeconomic, gender, sexuality, and geographical spectrum. Applications for this grant, open from July 1 to October 1, 2021, should therefore focus on studying underrepresented populations around one or more of the following ASD areas:

  • Disease burden: Research toward estimates of ASD incidence and/or prevalence along with neurodevelopmental or neurological comorbidities
  • Risk: Diagnostics and/or biomarkers, including genetics, to better understand ASD risk, and to discern how they intersect with the social determinants of health and structural discrimination
  • Assessments: Evaluation of assessment procedures across different cultures and differential response to treatment
  • Access to care: Exploration of structural barriers that prevent access to neurology evaluations and care, and access to/uptake of therapies
  • Interventions: Examination of the effectiveness of behavioral, educational, or medical interventions in underrepresented populations

The American Brain Foundation believes that one day, we will be able to live life without brain disease—and it all starts with funding research to discover cures. But we cannot do it without the support of our donors. Donate now to support more healthcare disparities research initiatives.

Controversy surrounds the newly approved drug to treat Alzheimer’s. What is aducanumab, and what does it mean for people with dementia?

An estimated 6 million people in the U.S. live with Alzheimer’s disease, and that number rises every year. By 2050, 14 million Americans over 65 may be diagnosed with this form of dementia. For so long, the outlook for Alzheimer’s patients and their families has seemed hopeless. As the sixth leading cause of death in the U.S., the FDA has not approved a drug to treat Alzheimer’s since 2003. That’s why the development and subsequent approval of a new drug, aducanumab (Aduhelm), has been both celebrated and debated.

On one hand, this new therapy offers a beacon of hope those affected by Alzheimer’s have gone so long without. On the other hand, its effectiveness, cost, and road to approval have caused much controversy. But what is the reason for all this controversy? From its development to accelerated approval by the FDA to now, here’s a brief history of aducanumab and how it works. We will also discuss its implications for the future of Alzheimer’s disease.

How does aducanumab work?

Aducanumab is an intravenous (IV) drug that seeks to address the underlying biology of Alzheimer’s disease by clearing certain plaques called beta-amyloid plaques from the brain. In the Alzheimer’s brain, abnormal levels of a specific protein clump together to form plaques that collect between neurons and disrupt cell function. The hope is that by reducing these plaques in the brain, individuals with Alzheimer’s will have more time to actively participate in daily life, enjoy more independence, and hold on to memories for longer. It is the first therapy that targets what actually changes in the brain as a result of this disease. Once prescribed, a patient can receive infusions every four weeks at a hospital or infusion therapy center.

Origins of Aducanumab

Initially developed by Biogen, with Eisai joining efforts in 2017, aducanumab underwent two clinical trials. They halted both trials in 2019 after an independent committee determined the trials would not reach their desired results. However, the trials later resumed, and the FDA announced the accelerated approval of aducanumab in 2020. Drugs given this approval usually treat serious conditions (such as cancer or HIV) and fill an unmet medical need. They also achieve a “surrogate endpoint” instead of the usually required clinical benefit of a measurable change in symptoms. In the case of aducanumab, the surrogate endpoint was the reduction of beta-amyloid plaques.

Major Criticisms

Medical experts and others in the Alzheimer’s community have expressed concerns over the approval of aducanumab. Their concerns boil down to the following:

  1. Unclear clinical trial results: Clinical trials did not show that reducing levels of beta-amyloid plaques in the brain reliably decreased dementia symptoms. Additionally, aducanumab was only tested in patients with mild cognitive impairment or people in the early stages of Alzheimer’s. So we don’t know how it may affect patients in more advanced stages of the disease. Trials also tested the drug primarily in non-Hispanic White patients. This occurred despite Black and Hispanic people having the highest incidence of Alzheimer’s disease nationally.
  2. Expert pushback: In November 2020, an expert advisory committee to the FDA unanimously voted against approving aducanumab. They noted that more than one-third of patients developed major complications as a result of the drug. Later, three of these committee members resigned in protest following the FDA’s approval announcement.
  3. Federal investigation: Acting FDA director Janet Woodcock called for a federal investigation by the Department of Health and Human Services to determine if the approval was consistent with FDA policies and procedures. This happened following accusations that an off-the-books meeting took place between the FDA official overseeing the aducanumab approval process and a top official at Biogen in May 2019.
  4. Hefty price tag: Currently, aducanumab is set to cost $56,000 a year. Without adequate insurance coverage, most Americans cannot afford the drug at this price. Even then, patients on Medicare would likely have to pay up to $11,200 per year. And the medication’s actual cost is just the beginning: Tests and documentation needed to prescribe the drug—plus monthly infusion costs—could rack up additional tens of thousands of dollars.

Weighing Risk and Hope

Despite the controversy, aducanumab still represents hope for many of those affected by Alzheimer’s disease. It is the first therapy with the potential to slow the risk of the disease. This offers those affected a chance to enjoy a longer, more independent, and higher-quality life.

In the FDA’s official press release on the approval of aducanumab, the director of their Center for Drug Evaluation and Research, Patricia Cavazzoni, MD, said, “Alzheimer’s disease is a devastating illness that can have a profound impact on the lives of people diagnosed with the disease as well as their loved ones. Currently available therapies only treat symptoms of the disease; this treatment option is the first therapy to target and affect the underlying disease process of Alzheimer’s. As we have learned from the fight against cancer, the accelerated approval pathway can bring therapies to patients faster while spurring more research and innovation.”

Not everyone who has Alzheimer’s will be a candidate for this drug. We don’t know how it affects people with more advanced Alzheimer’s or those on medications like blood thinners. There is also concern about the lack of diversity among test participants, and it’s unclear what the trial results mean for populations with co-occurring conditions related to structural racism. Physicians and advocates hope any subsequent trials conducted will provide more evidence of the drug’s clinical benefit and include a more diverse population.

While aducanumab is not a cure, it’s an important step forward. It may lead to a new era of treatment for Alzheimer’s, such as combination therapy that targets more than one symptom or cause of the disease. It’s also a huge research breakthrough that will lead to further innovation. We have yet to see exactly what beta-amyloid plaque reducing therapies mean for brain diseases. But we know studying them further will only lead to more answers.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about Alzheimer’s disease and other brain diseases or make a gift to support groundbreaking brain disease research.

Here’s why experts recommend those with brain disease get vaccinated, why mitochondria may influence brain function, and how mice are leading to new treatments for Alzheimer’s

There are so many enduring brain mysteries out there. This is why the American Brain Foundation is dedicated to promoting and investing in research for all brain diseases. We know they are all interconnected. So the more research we fund, the more treatments, preventions, and cures we will uncover. The following brain disease research updates from researchers and neurologists around the world exemplify this mindset: from why experts recommend people with underlying neurologic conditions get the COVID-19 vaccine to the role mitochondria plays in brain health to studies on mice models leading to new Alzheimer’s therapies. Keep reading to learn more.

Underlying Neurologic Conditions and the COVID-19 Vaccine

Although there have been concerns that the COVID-19 vaccines could make symptoms of existing neurological conditions worse or cause additional side effects for those with brain disease, experts say otherwise. In fact, the virus itself can cause new or worsening symptoms for people with conditions like Parkinson’s and migraine. Brain & Life® Magazine asked neurologists to address and explain any possible problems with vaccination for people with Guillain-Barré syndrome, Parkinson’s disease, multiple sclerosis, epilepsy, and migraine. Here’s what they had to say.

Could Mitochondria Be the Key to a Healthy Brain?

One organ is particularly vulnerable to mitochondrial damage: the brain. Why? Because the more energy a cell uses, the more mitochondria it has, and the more critical mitochondrial health is. We estimate that each neuron—the cells of the brain and nervous system—can have up to 2 million mitochondria. That’s why a small but growing number of scientists are turning their attention to how mitochondria may affect brain health. Discover preliminary studies exploring this topic and how mitochondria may be at the heart of an enduring mystery for brain disease researchers.

Mouse study suggests that repairing brain protein production could counteract Alzheimer’s disease

A recent study found that restoring protein production in the brain could help treat Alzheimer’s disease. In the study, a substance that jump-starts protein synthesis helped mice with cognitive problems improve on memory-associated behavior tests. So what are the implications? There is hope in protein production for treating Alzheimer’s. Read more about the discovery here.

The American Brain Foundation believes that, one day, we can live in a reality without brain disease—and it all starts with funding research to discover cures. To support our work of connecting scientists with donors, make your gift today.

A family battles two different brain diseases at the same time

In the span of a few months, two different brain diseases changed Michele Fitzgerald’s family forever. For the 43-year-old wife and mother of two daughters, the first blow came when her 4-year-old daughter was diagnosed with pons glioma, a rare and aggressive brain tumor with a six-month survival rate.

Michele and her husband spent much of the next few months in the hospital at their daughter’s bedside. But one day, Michele experienced pain in her head. “It was more than a headache,” she says. “It was like my head exploded.”

She didn’t know it at the time, but a brain malformation she likely had since birth had ruptured. An arteriovenous malformation (AVM) is an abnormal connection between arteries and veins in the brain or spine. Most people who have them, like Michele, are unknowingly born with them. AVMs can rupture, cause bleeding and seizures, and be life threatening.

“I was lucky because it happened at Children’s Memorial Hospital,” Michele says. Because she was already in the hospital with her daughter when the brain malformation ruptured, she was able to receive immediate attention from a nurse who figured out she was hemorrhaging. “I could have been at home alone, I could have been driving my car. I could have been anywhere.”

Doctors were able to stabilize Michele and transfer her to another hospital, where she remained for two weeks. However, the malformation needed to be removed or another rupture could kill her. But Michele was hesitant to have brain surgery that would make her unavailable to her sick daughter. “It was incredibly difficult to be dealing with both of those situations at the same time,” her husband Bruce says.

Devastatingly, her daughter passed away, and Michele knew she had to get the surgery for the sake of her other young daughter and husband.

A Long Recovery

Before her brain malformation ruptured, Michele found remembering things and multitasking easy. She enjoyed a successful career in consulting. She was a voracious reader and enjoyed cooking.

But after the craniotomy, Michele spent many months in recovery without fully understanding what was happening around her. In addition to grieving the loss of her daughter, she experienced drastic changes in the way her brain functioned. She struggled with spatial recognition. She experienced hallucinations. Often, she didn’t know what room she was in and was unable to remember two-step directions.

Her cognitive abilities are still affected more than a decade later. In times of stress, they decline. She once called her husband at work 15 times without any memory of the previous calls. Frequently, her family has to tell her she’s repeating herself. And at first, she didn’t believe them. “They have told me that they felt defensive themselves because I would feel like they were lying to me,” she says. It was hard, at first, to accept that her perception was different than what was happening.

“When someone’s brain is not functioning correctly, it impacts everything in their life. It impacts how they think, how they feel about themselves…how other people feel about them,” says Michele. “It’s a very hopeless and helpless feeling.”

Uncovering a Path to Survival

AVM profoundly changed Michele’s life, and accepting those changes and adjusting to them took time. However, after 18 years and continued appointments with a neuropsychologist, Michele has made a lot of progress. She also learned some tricks to help manage life with her cognitive abilities. “My brain doesn’t function the same way,” she says. “I have a hard time holding on to information depending upon how I’m feeling or what I’m doing.”

To help with her short-term memory, Michele writes notes to herself or saves reminders in her phone. She sets alarms while cooking and often asks her husband to help her remember things. However, despite the challenging path of survival and recovery, Michele has noticed some positive effects in her new changes as well. She has grown to appreciate the people around her more. “I have a lot more empathy than I ever did,” she says.

Her husband Bruce says the trauma they have experienced as a family has helped them appreciate their day-to-day life. “We just appreciate being alive more,” Bruce says. “I think it’s important to talk about it, to make people aware of how devastating the problem can be, yet, that there’s definitely a path to surviving.”

Michele connects with others who have been impacted by brain disease through online support groups. She provides and receives help from others, and through this, has made peace with her new identity.

“I’ve just learned how to think about things differently…I had to start looking at values in myself differently,” Michele says.

The American Brain Foundation funds research across a whole spectrum of brain diseases to improve prevention, treatment, and cures, giving hope to this family and others. With your help we can provide hope and help to future patients and their families. Learn more about how brain disease has affected others through these stories or donate today.

Learn about our new migraine and headache research fund established in honor of Scientific Breakthrough Award recipient Peter Goadsby, MD, PhD

Migraine impacts over 37 million people in the United States. Over the past three decades, Dr. Goadsby, professor of neurology at the David Geffen School of Medicine at UCLA, piloted seminal research that led to the discovery of the role of the calcitonin gene-related peptide (CGRP) in migraine and identified it as a target for drug development. This research led to clinical trials that resulted in the development of biologics and drugs for the preventive and acute treatment of migraine. These medicines changed the lives of countless people living with migraine across the world.

Earlier this year, the American Brain Foundation awarded Dr. Goadsby the Scientific Breakthrough Award in recognition of this incredible contribution to migraine research. His findings prove that the more research we do, the more answers we’ll find and the more people we’ll help. That’s one big reason why we are establishing the Goadsby Headache Research Fund to support:

  • Innovative research projects. The grant supports scientists who will advance our understanding of migraine and develop treatments.
  • Research that addresses health disparities in the areas of headache and migraine. This includes evaluation of health services, access to care and treatments, quality of care, implementation of therapies, physician performance, or patient adherence.

Thank you to our sponsors AbbVie and Biohaven Pharmaceuticals for helping advance breakthroughs in headache and migraine research. You can also make a difference by backing research grants for these debilitating disorders impacting the lives of millions by supporting the Goadsby Headache Research Fund.

The American Brain Foundation believes that, one day, we will be able to live life without brain disease—and it all starts with funding research to discover cures. Learn more about the research we fund here.

A single working mom of two keeps moving forward even as multiple sclerosis tries to slow her down

It’s only in looking back that Linda recognizes the earliest indications of multiple sclerosis (MS). In high school, she recalls a time when her right arm suddenly stopped functioning while she competed at a swim meet. She endured back issues as a cheerleader and throughout her 20s, and experienced periods of disorientation in her 30s but attributed her symptoms to other causes.

She finally reached a point where she couldn’t ignore them anymore. A startling episode where she lost her eyesight landed her in the hospital. Her doctor dismissed it as a virus and assured her she’d regain her eyesight in a matter of weeks. Though Linda managed to return to work about three months later, she couldn’t see clearly. She couldn’t work on her computer or read like she used to. As a makeshift solution, Linda would use a notecard to keep her eyes focused on the lines in her book or on her computer screen. With limited sight, she learned to cook from memory and by touch. For the entire next year, Linda could only see shades of light and dark.


As her symptoms became more apparent and her episodes more frequent, Linda needed more answers. She visited an internist and finally received an explanation for the disturbing symptoms that would change her life moving forward: She had MS.

Linda had to keep moving forward, despite her symptoms, for her kids and her job. “I was told I would have to quit my job as a stockbroker due to the stress associated,” she says. “That was not an option as I was a single mother with two daughters to raise. It became clear to me that I would have to be my own advocate.”

Linda continued researching to learn about MS and how to help manage her symptoms. She learned that when she got more sleep, she experienced less debilitating episodes and was able to better handle her symptoms. In those times when she’d have an episode, sleep was her “elixir” that allowed her to reset.

Eventually, while working on a project, Linda pushed past her typical warning signs. “I had pushed myself too hard and didn’t back off,” she says. “I woke up one morning paralyzed from the neck down so I couldn’t even roll over. I couldn’t go to the bathroom by myself…I never could walk without a cane again.”

After living 20 years with relapsing-remitting MS (RRMS), Linda crossed into secondary progressive MS (SPMS). She lost all feeling in her abdomen and fingers and couldn’t stand long enough to cook family meals without lying down to take breaks.

But most significantly, her eyesight continued deteriorating. “I started losing my eyesight where my peripheral vision kept narrowing to [the point that] I was down to one inch vertically,” she says. “So I had to close one eye to see. And then if I even slightly turned my head, I went into kaleidoscope vision again and lost my eyesight.”

Just as she had all along, Linda dove into looking at different treatment options.

The Power of Research

A segment on the “Today” show inspired her to seek out new options for treating her MS with medication. She sought help from her doctor and they discussed the options, settling on a new medication to try. She took her first pill the next morning and began to see improvement.

“My walking had gotten so bad, I had to use strength in my arm with a walker to take even a few steps,” she recalls. But soon, Linda went with her husband and a couple of neighbor children for ice cream. For the first time in several years, she was able to walk down the garage stairs to the car without anything but her cane.

Seeing the connection between stories and diseases has reinforced Linda’s belief in the power of community and research. “I think you can learn by what other people have, what may have worked for them,” she says. “It all interfaces. Some things you do to help one disease can interface with others.”

Life Today

These days, life feels a little easier for Linda. Now retired, she doesn’t have to keep a schedule. She is grateful to have her eyesight and read books. She can use the restroom on her own. While her walking is limited and she can’t stand for long periods of time, Linda has an electric scooter and walkers on each floor of her house to help her move around. “I call them my turbo walkers, but they’re very functional,” she says. “They give me stability. I don’t use them all the time. I can still walk a little bit.”

For support, Linda turns to people in her life and to online communities for others affected by the disease. She regularly communicates with other people with MS online, where they share challenges and brainstorm ways to handle them.

Linda continues to support research and imagines a life without brain disease: “It would be like night and day. I mean, I’ve lived with MS for 38 years and it would have been so much easier if I didn’t have a brain disease to deal with. It would be tremendous to be able to wear heels, to be able to walk… Just day-to-day, it would be so great to return to my pre-MS years.”

Twenty years ago, there were few, if any, medications to effectively treat MS. But since then, treatment options have improved for patients with this disease. There are currently six oral and 12 injectable medications that work against MS; however, despite the availability of effective medications, there is still no cure. We need additional research to make this a disease of the past.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A Next Generation Research Grant sparks a doctor’s interest in research to identify early predictors of Alzheimer’s disease

From studying the brains of mice to identifying biological measures that can indicate a person’s risk for developing Alzheimer’s, Suzanne Schindler, MD, PhD, has paved a unique research career path. In 2012, she received a Next Generation Research Grant from the American Brain Foundation in collaboration with the American Academy of Neurology for a Clinical Research Training Fellowship in Alzheimer’s and Dementia Research. This grant helped her transition from a career as a clinician to a clinical scientist and make the leap to studying those biological measures, called biomarkers. With this, she began studying the potential of a diagnostic test for Alzheimer’s using these biomarkers.

“Biomarkers are just really an incredible tool. We’ve been trying to develop effective therapies for Alzheimer’s disease for a long time,” says Dr. Schindler, neurologist and assistant professor of neurology at Washington University School of Medicine in St. Louis. “I think a big reason we weren’t successful is we didn’t have good biomarkers, but now, I think we do…The game has changed.”

Shining a Light on Neurological Diseases

For most of her PhD work, Dr. Schindler studied mouse models of Alzheimer’s disease. Later, she returned to the lab to better understand why neurological diseases often start in one area of the brain and then spread. But it was difficult to model that scenario in a mouse’s brain.

The Next Generation Research Grant funded Dr. Schindler’s work to develop a system that turned on specific genes in a mouse’s brain by shining a light on them. This system later served as a starting point for other researchers. In 2020, research that built on Dr. Schindler’s initial project was published, providing new insights into biological function and controlling gene expression.

As Dr. Schindler proceeded in her fellowship, she realized that she wanted to do research that was more closely related to the patient care she was providing in the clinic. She became passionate about discovering ways to identify indicators of Alzheimer’s disease by analyzing blood or cerebrospinal fluid.

Blood Tests for Alzheimer’s: From Bench to Bedside

Dr. Schindler’s education, clinical work, and Next Generation Research Grant project served as a springboard for her career. After the NGRG award, she received a National Institutes of Health (NIH) Career Development (K) Award to expand her research training. “I had to learn statistics and how to do clinical research, and started studying CSF [cerebrospinal fluid] biomarkers of Alzheimer’s disease,” she says.

Dr. Schindler also continued studying blood-based biomarkers as well, and in 2019, she co-authored a paper on a blood test for Alzheimer’s disease. Following that publication, the test became the first commercially available blood test to diagnose Alzheimer’s. In the past, Alzheimer’s could only be diagnosed with invasive procedures like a lumbar puncture, in which a needle is inserted into the spinal canal to collect the fluid that surrounds the brain.

This research in the lab has also translated to patient care in the clinic. “As a dementia doctor, I just ordered this [blood test] on a patient a couple of weeks ago. And I called the patient with the results last week,” she says. “That’s bench to bedside.”

In recent years, additional blood tests have been in development. Dr. Schindler has continued to study fluid biomarkers of Alzheimer’s disease. To support this research, she received her first NIH Research Project Grant (R01) to further develop a blood test for Alzheimer’s disease.

Informing The Future of Alzheimer’s Research

Biomarkers give clues to the biology of Alzheimer’s disease and help with clinical diagnosis. “It’s very common that I have patients that have not just one problem, but multiple problems,” says Dr. Schindler. “Sometimes it’s hard to figure out whether their memory and thinking problems are due to Alzheimer’s or something else, and so the objective test is very helpful.”

Having a blood test for Alzheimer’s is also important for drug development and clinical trials. Blood tests allow researchers to identify people with Alzheimer’s brain changes at least a decade before they’d likely develop symptoms. They can then enroll them in a clinical trial and screen for people who would most benefit from the trial. “You want to make sure that they’re at risk for having Alzheimer disease,” says Dr. Schindler. A future preventive drug might have side effects and be expensive. So it’s important that people involved in clinical trials are the ones who could most benefit.

Longer term, she thinks it’s possible that a blood test for Alzheimer’s could become a standard health screening at a certain age, and if the results indicate a risk, the person could receive a drug to prevent or slow down symptom onset.

How the Next Generation Research Grant Program Fueled Her Career

Dr. Schindler credits the American Brain Foundation’s Next Generation Research Grant program with helping her make the leap from clinician to clinician scientist. Its role in her early years as a researcher was crucial to getting her to where she is today. The grant allows early-career researchers to develop a specialized area of study in brain disease research according to their interests, rather than focus on seeing patients or working on predetermined projects. “You really need that time to do some research and think about what you really want to study. And without an award like that, you just can’t do it,” she says.

As her interests grew, the flexibility of the grant allowed her to change paths and explore clinical research. “I haven’t looked back,” Dr. Schindler says. “But in a lot of ways, [without the grant,] that would be pretty unusual for someone to be able to make such a big career detour… I kind of ended up in a different place than I was expecting—but in a good place. I’m very happy that I did it.”

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Next Generation Research Grants fund the innovative research of early-career investigators, encouraging passion for research and laying the groundwork for future success. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

From using the most expensive drug in the world to save lives to studying the long-term effects of COVID-19 on the brain, these are the latest updates on brain disease research

These five articles prove that by supporting and advancing more research on the brain, we will find better treatments, prevention, and cures for brain disease. Sometimes it can be by bringing life-saving drugs to more people. Likewise, it can be testing new therapies in hopes of finding effective cures for inherited blindness. It can even studying the neurological effects of COVID-19. Whatever the case, research is making an impact for those most affected by brain diseases. Read on to discover how.

Baby boy is first to receive £1.8m treatment for spinal muscular atrophy on NHS

Research led by Jerry Mendell, MD, FAAN, 2019 recipient of the American Brain Foundation’s Scientific Breakthrough Award, uncovered a one-time treatment for children with spinal muscular atrophy, an otherwise fatal disease and the leading genetic cause of death for children. The treatment, known as Zolgensma, provides a cure for Type I SMA. It is the most expensive drug in the world, coming in at a whopping £1.79m (over $2.5m) per dose. It has been available in the U.S. for some time through various insurance plans. However, it recently became available through the NHS, the national healthcare service in the U.K. Arthur Morgan, a five-month-old from England, received the gene therapy infusion only three weeks after first being diagnosed with SMA. Read the incredible story here.

Scientists Partially Restored a Blind Man’s Sight With New Gene Therapy

The Nature Medicine journal reports the first published study on the successful use of optogenetics. It’s a technique 13 years in the making that builds light-catching proteins in the eye. While it does not lead to the full restoration of sight, it shows that more effective treatments are to come. Recently, scientists applied this technique, partially restoring a man’s sight in one of his eyes. Learn more about this research and the future of optogenetics here.

9 Ways to Maximize Progress When Recovering from a Stroke

Neurologists used to think that survivors of stroke only had a six-month window to recover. After that, they would be left with whatever physical and cognitive limitations remained. Recent discoveries show that neuroplasticity, or the ability of the brain to form new neural pathways, allows the brain to continue regaining function almost limitlessly. Check out this Brain & Life® magazine article with advice from experts on how to help the brain utilize neuroplasticity to maximize recovery after stroke.

1 in 3 People Who Survive COVID-19 Are Left With ‘Brain Disease’ or Psychiatric Disorders, Says New Study

New research on the long-term effects of COVID-19 in The Lancet Psychiatry suggests that as many as a third of COVID-19 survivors struggle with brain disease or other psychiatric disorders. However, of the 34 percent of COVID-19 survivors who were diagnosed with either a neurological disorder or psychological condition within six months of infection, only a small number experienced brain hemorrhaging, stroke, or dementia. Learn more about the potential connection between COVID-19 and brain diseases here.

The American Brain Foundation believes that, one day, we can live in a reality without brain disease—and it all starts with funding research to discover cures. To support our work of connecting scientists with donors, make your gift today.

A bipartisan bill, genetic therapies, and music are beacons of hope in this month’s brain disease research round-up

When it comes to brain disease, studying the whole brain makes a whole lot of difference. All brain diseases are interconnected. Taking the American Brain Foundation’s holistic approach to brain disease research means improving the lives of all those affected. This month, find out how a bill aimed at reducing medical complications for people with Alzheimer’s, a study on genetic therapies for incurable neurodegenerative disease, and music are bringing hope to those fighting for life without brain disease.

Sen. Stabenow introduces new bill aimed at improving care for Alzheimer’s patients

Ninety-five percent of individuals with dementia have one or more chronic conditions, such as hypertension, heart disease, and diabetes. To help them, Senator Debbie Stabenow (D-MI) introduced the bipartisan Comprehensive Care for Alzheimer’s Act bill. It aims to reduce medical complications for Alzheimer’s patients by creating a new way to fund dementia care through Medicare. The bill would certainly help the one in 10 seniors across the United States who currently live with Alzheimer’s. Read more about how this bill seeks to improve the lives of those living with Alzheimer’s disease.

Genetic therapies offer new hope against incurable brain diseases

For incurable brain diseases including Huntington’s, a fatal, genetic neurodegenerative disease without treatment options, and spinal muscular atrophy, an inherited neurodegenerative disease that typically affects infants, outcomes have seemed hopeless for so long. Now, many researchers see a path to potential treatments for these diseases in drugs known as antisense oligonucleotides (ASOs). However, progress on research in this field has slowed. A large phase III trial exploring these drugs in relation to Huntington’s abruptly halted this year because the benefit did not outweigh the risk. Here’s why scientists are looking to ASOs for answers to treat these diseases and the next steps following pausing the study.

The Positive Benefits of Music for People with Dementia

Research supports the idea that music is good for the brain. It can also help relieve symptoms such as depression and anxiety. In addition, they can facilitate meaningful changes in the disease’s trajectory for people with dementia. Groups like Music Mends Minds are working to help form bands for people with neurodegenerative brain diseases, traumatic brain injury, stroke, and posttraumatic stress disorders. Discover how virtual sing-alongs are helping engage people with dementia.

The American Brain Foundation believes that, one day, we can live in a reality without brain disease—and it all starts with funding research to discover cures. To support our work of connecting scientists with donors, make your gift today.

Dr. John Quinlan, master educator at the University of Cincinnati College of Medicine, honored with Ted Burns Award

To maintain the idealism and compassion of neurology, humanism must come first even as practices evolve. Established in 2019, the Ted M. Burns Humanism in Neurology Award acknowledges the influence of the most benevolent and innovative neurologists in the field. It’s the only award of its kind in the field of neurology and aims to celebrate those members of the profession whose work embodies humanism in patient care, education, advocacy, and everyday encounters. By recognizing outstanding neurologists, this award seeks to inspire others to improve healthcare delivery and the lives of their colleagues and patients. This year, the American Brain Foundation is proud to honor a neurologist who truly exemplifies all this award represents: Dr. John Quinlan.

Over the past 33 years, Dr. Quinlan has been an exceptional neurologist, scholar, and educational leader within the neuromuscular field and more broadly at the University of Cincinnati College of Medicine and Medical Center. As a professor in the Department of Neurology and Rehabilitation Medicine, director of the Muscular Dystrophy Association Clinic, and director of the EMG Laboratory at the University of Cincinnati College of Medicine, Dr. Quinlan has made massive contributions to education, research, and patient lives.

Dr. Quinlan has served as a principal investigator on MDA grants focusing on cutting-edge research with the mdx mouse, a model for studying Duchenne muscular dystrophy, and a co-investigator on an ALS competitive contract. He has also collaborated with other researchers on cross-disciplinary projects, including muscle physiology research.

“Dr. Quinlan is a role model to his patients and indeed to us all,” says Dr. Brett Kissela, professor and chair of the Department of Neurology Rehabilitation Medicine at the UC College of Medicine.


Dr. Quinlan’s excellence is evidenced by his impact on students and peers. In the past 10 years, he has been presented with teaching awards including the Humanism in Medicine Award from the University of Cincinnati College of Medicine for his excellence in clinical care, compassion, and dedication to service. Perhaps most impressively, he has twice been chosen by students to be the keynote speaker for their white coat ceremony.

“His charismatic and self-effacing style has made him a perennial favorite of students. His numerous recognitions point to his exceptional qualities, not only as a teacher, but also as a wonderful human being who inspires students, colleagues, and patients with his knowledge, integrity, down-to-earth style, and self-deprecating humor,” says Dr. Kisella.

Dr. Kissela and the University recognize him as an individual who has accomplished a tremendous amount in all domains of teaching, patient care, and research. And as someone with muscular dystrophy himself, Dr. Quinlan has especially great empathy and understanding of his patients’ situations.

“Teaching and learning with my students, colleagues, and patients; and advocating for those with greater needs than my own have been the most fulfilling aspects of my career,” says Dr. Quinlan on receiving the award. “It is a great honor to receive this award and a privilege to help lighten the load of our patients, their families, and our workmates.”

Listen to a full interview with Dr. Quinlan and Neurology podcast editor Dr. Stacey Clardy here. And don’t forget to register for our webinar, Humanism in Neurology, on July 27, 2021, to celebrate and honor Dr. John Quinlan and his incredible accomplishments.

The American Brain Foundation believes that, one day, we will be able to live life without brain disease—and it all starts with funding research to discover cures. Learn more about the research we fund here.

An American Brain Foundation board member outlines his path from a rare brain disease diagnosis to advocacy

Ben LeNail was perfectly healthy until age 40. He lived in Palo Alto, California, raising a family. He loved to explore the natural wonders of Northern California by running, skiing, white water rafting, hiking and mountain climbing.

And then something changed.

Ben, who used to run eight miles with friends, suddenly could barely manage to run a single mile. “There was a heaviness, a lack of stride, and eventually I also started stumbling, which is really another telltale sign that there is almost an electrical short in your body, in your spine specifically,” he says.

He initially ignored the signs, thinking he was just getting old. “What happened to me is very typical of the start of a neurological disease,” Ben says. “The symptoms are kind of small to begin with, and very, very hard to pinpoint to a specific cause.”

But then his wife told him he was “walking funny” and dragging his feet. So she signed him up with a physical therapist. The therapist gave him a reflex test and told him there was nothing wrong with his muscles. But he likely had a neurological condition.

That revelation began Ben’s journey with a rare brain disease. It was a winding path from a two-year search for a diagnosis of X-linked adrenoleukodystrophy to becoming an advocate. It even led to him setting up a foundation and becoming a part of the American Brain Foundation.

In Search of a Diagnosis

Getting a certain diagnosis was anything but easy. His doctors hit a dead end after ruling out the usual suspects, including ALS, MS and Parkinson’s. Eventually, they told him to come back in six months when his symptoms got worse. Then they might have more success.

“The reality is that you hit those dead ends, and then you go home and you sulk,” he says. “You’re like, I have something, I will never know its name, it may kill me, and it sucks.”

After many more tests, Ben finally had a name: X-linked adrenoleukodystrophy. This genetic disease, primarily seen in young males, affects the nervous system by reducing the ability of the nerves to relay messages to the brain. It also causes a shortage of certain hormones, which can cause weakness, weight loss and vomiting.

In Search of Information

After the shock wore off, Ben jumped into education mode and researched as much as he could. He found out the lead author for a lot of the papers was based in France, where Ben came from. He reached out.

“A very, very wonderful trait in many rare disease communities is people are very chummy, very generous with their time, so I got an answer right away from an eminent clinician in Paris, even though I wasn’t even his patient,” says Ben. “He educated me, and then he said, ‘We have a patient meetup in Paris at the end of March.’”

That meetup in 2012 was Ben’s first immersion in the community. When he first saw kids in wheelchairs with feeding tubes and breathing apparatuses, he felt he didn’t belong here. But he changed his mind, and thought, “I actually do belong here. That’s my new tribe, and I have to make friends, I have to talk to people, I have to hear their stories.”

Becoming an Advocate

Ben says the conference in Paris was a profound experience, and inspired him to start a similar foundation, called ALD Connect, in the U.S. in 2013. “I wanted to get educated on the disease and the field, the general field of neurology and rare disease, and then once I felt I had built a lot of know-how, I wanted to share that,” he says.

One of the goals of the foundation is to encourage the pharmaceutical industry to pursue treatment. It does this by showing companies that patients with X-linked adrenoleukodystrophy are organized and hungry for treatment. Having things like a patient registry makes it easier for researchers to create a cohort of patients for clinical trials.

Even so, progress moves slowly, Ben says. When he started the foundation, a company in Massachusetts was in the middle of a phase-two study on a possibly life-saving gene therapy for kids. It took them years to get to that point. Eight years later, the therapy is close to being available to patients. “Some of the foundational intellectual property came out of France literally around 2005, and the therapy is very likely to be approved and commercialized in 2021,” Ben says.

For Ben, the decision to become an advocate came from his desire to connect with others. He also wanted to be a leader. “You can find incredible fellowship and support and solidarity in that community, and so I wanted to not only be part of it, but be a leader in it, a go-to person, a guru, a mentor to people who just got diagnosed and are feeling hopeless and lost and totally crushed,” he says.

Last year, Ben joined the board of the American Brain Foundation to further his impact. “One thing that’s been definitely tugging at me for a long time is scaling beyond rare disease and specifically beyond X-linked adrenoleukodystrophy and understanding some of the fundamental patterns of neurological disease, neural degeneration,” he says.

Ben felt moved by the Foundation’s pursuit of a life without brain disease. “It’s really a very bold and ambitious approach of saying, ‘How can we live a life that is free of these crippling diseases, like multiple sclerosis, stroke, epilepsy that have terrible consequences for quality of life’,” he says.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Meet the new grant recipients and learn about their innovative research projects


The American Brain Foundation’s Next Generation Research Grants fund and support innovative investigations by the best and brightest early-career researchers. Funding research across a broad spectrum of the brain and nervous system is our best hope for finding better treatments, prevention, and cures for brain diseases and disorders. With the support of our donors, we’re helping to launch long-term careers for the next generation of clinical neuroscience researchers so that one day we can all enjoy life without brain disease.

Impact of Next Generation Research Grants

Stats about the impact of Next Generation Research Grants

Welcome to the 2021 Class

Jonathan Brent, MD, PhD, ALS

Jonathan Brent, MD, PhD


Mutations in KIF5A, a type of motor protein, have been identified in patients with ALS. Dr. Brent will study how these motor proteins function in neurons, and how and why mutations in these proteins may cause ALS. His research has the potential to impact how ALS is identified and treated, leading to improved treatments and quality of life for people with this incurable disease.

Helen Hwang, MD, PhD, Parkinson's disease

Helen Hwang, MD, PhD

Parkinson’s Disease

By using innovative imaging techniques, Dr. Hwang intends to analyze cerebrospinal fluid to identify biomarkers for Parkinson’s. New biomarkers may aid in early diagnosis and monitoring, as well as the development of new therapeutics.

Paul Sampognaro, MD, ALS

Paul Sampognaro, MD


Dr. Sampognaro’s research will help to clarify the disease mechanism of ALS and identify new therapeutic targets for treatment.

Ikjae Lee, MD, ALS

Ikjae Lee, MD


Dr. Lee’s project will seek to identify lipidome biomarkers that are associated with faster disease progression, and will examine whether serum lipidome and lipoprotein composition are significant predictors of ALS. This research could point to metabolic alterations and nutritional deficits that could help to explain why ALS progresses more quickly in some patients.

Samuel Terman, MD, Epilepsy

Samuel Terman, MD


Dr. Terman will study the effect of anti-seizure medications discontinuation on seizure relapse risk and create an individualized risk calculator of seizure relapse for both discontinuation and continuation of anti-seizure medications. This research will help doctors and patients make better treatment decisions by estimating the risks and benefits of discontinuing anti-seizure medications.

Wai-Ying Wendy Yau, MD, Cognitive Aging

Wai-Ying Wendy Yau, MD

Cognitive Aging

The goal of Dr. Yau’s research is to discover the connections between early vascular risk and white matter injury. By identifying biomarkers in the white matter, Dr. Yau hopes to connect these indicators to higher vascular risk in order to slow the rate of cognitive decline and promote healthier brain aging.

Alexander Gill, MD, PhD, Multiple Sclerosis

Alexander Gill, MD, PhD

Multiple Sclerosis

Dr. Gill’s research will study NLRX1, a protein that plays a role in the immune system. Recent studies have shown a correlation between the loss of NLRX1 and an increase in neuroinflammation.

Renata Knox, MD, PhD, Neuromuscular Disease

Renatta Knox, MD, PhD

Neuromuscular Disease

Dr. Knox will study the DUX-4 protein as a potential cause of Facioscapulohumeral muscular dystrophy and will examine gene modification therapy to potentially block the DUX-4 protein from being released.

Reem Waziry, MBBCh, MPH, PhD

Cognitive Aging

Dr. Waziry will develop biological age measurements assessed through a routine blood test to study whether biological age can help predict cognitive outcomes for stroke survivors. This project will also help researchers learn more about racial disparities in stroke risk and outcomes.

Learn more about our researchers.


Thank you to our partners for making the Next Generation Research Grants possible

The American Brain Foundation works with the most respected organizations working to defeat specific diseases of the brain and nervous system. Together, we can outsmart brain disease.

Our Research Partners

American Academy of Neurology – Our Founder & Research Partner

The ALS Association

Alzheimer’s Association

American Epilepsy Society

American Heart Association

CReATe Consortium

Epilepsy Foundation

The Mary E. Groff Charitable Trust

McKnight Brain Research Foundation

Muscle Study Group

Myasthenia Gravis Foundation of America

National Multiple Sclerosis Society

Parkinson’s Foundation

Society of Vascular and Interventional Neurology

Tourette Association of America


The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

Debra Meyerson was a tenured Stanford University professor and happily married with three teenage children. She was active and fit. But then a severe stroke nearly killed her and left her with a paralyzed right side and no speech.

After her stroke, Debra focused almost completely on rehabilitation therapy for three years. She was desperate to get back to who she was. Eventually she made a lot of progress. But Debra still walked with a limp, had no function in her right arm, and, most devastatingly, had limited speech. 

At the end of her medical leave at work, she had to give up her tenured position at Stanford. This was another blow—a “second trauma” to life as she knew it. 

Debra’s life forever changed. Not only was her body different but her identity as a professor was gone as well. Debra now had to not just fight to recover more of her physical abilities. She also had to embrace her new identity as a stroke survivor. Finally, she needed to build a new life consistent with her new capabilities.

The need for emotional resources

Through her experience, Debra found there was a major gap in emotional resources for stroke survivors. This includes the often painful but crucial work required to consciously and deliberately rebuild one’s identity and life. 

A large tool in this process for Debra came through authoring a book with the help of her family. She began to write the book to “prove she could.” As a scholar, writing was a large part of her pre-stroke identity and something she was trying to hold onto. “When I started diving into the topic of identities—one that I studied and researched as an academic—I realized I needed to turn that lens on my own journey,” she says. “I needed to really look at how my identities were changing.”

Part of that journey was recognizing that no matter how hard she worked, she would most likely be living with some degree of disability for the rest of her life. Writing the book helped her through the emotional journey. She began to view the book as a way to help others and find a new purpose. “That was another key discovery: how important it is to have purpose and how that could help me rebuild a rewarding life,” she says.

Debra’s book, “Identity Theft: Rediscovering Ourselves After Stroke,” aims to assure survivors and caregivers that they are not alone in their physical and emotional journeys post-stroke. Through the book and Stroke Onward, the nonprofit she and her husband created, she hopes to collaborate with others to raise awareness mostly for the emotional aspect of stroke. “When acute brain disease such as stroke occurs, it can immediately change your life and the identities that you and your family previously had lived,” she says. “We are focusing the efforts of Stroke Onward on the emotional journey to rebuild rewarding lives because too little is happening in this space.”

Even though Debra recognizes that each person’s recovery looks different, she does believe there are some universal truths. 

  1. Work hard on your recovery: You can keep improving even 10 years or more after your stroke. 
  2. Celebrate the small wins: Recovery may seem overwhelming at first, but step by step, it adds up.
  3. Advocate for yourself: You can recruit family and friends to be your advocates as well. 
  4. Look forward not back: But still, give yourself the space to grieve what you have lost. It’s important to honor those feelings. 
  5. Find the deeper meaning in what you used to do but can’t anymore: Debra used to love running. Now, she finds pleasure in walking and hiking. Debra enjoyed being a professor. Now she looks to contribute via her organization, Stroke Onward.
  6. Ask for help: This doesn’t just apply to things you can’t physically do but also in processing the emotional journey. 


Debra’s lives as a wife, mother, daughter, sister, and person who loves to exercise and play sports still exist. “I think I still have the same values and many of the same personal characteristics that are part of my identity: I’m still determined, willful and independent,” she says. “The biggest change is that now my identities also include stroke-survivor and person with disabilities.” Debra hopes to continue to share her story and advocate for the emotional needs and resources for stroke survivors and their families. 

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

 To learn more about Stroke Onward and it’s mission of supporting stroke survivors, families, carepartners, and the healthcare community in navigating the emotional journey to rebuild identities and rewarding lives after stroke, visit their website at

Our supporters raised over $200,000 for brain disease research at this year’s Commitment to Cures virtual gala

On April 21, 2021, the American Brain Foundation’s largest annual fundraiser, Commitment to Cures, took place as a virtual gala for the second year in a row. The event, emceed by Jim Cramer, host of CNBC’s “Mad Money,” celebrated and honored the researchers, scientists, and advocates on the front lines of the fight against brain diseases and disorders. Awardees included Dr. Sanjay Gupta for his work raising public awareness of the importance of brain health, Cindy McCain for her awareness-building and philanthropic work for glioblastoma, and Khloé Kardashian for her efforts to raise awareness for migraine. Foundation Board Vice Chair Susan Schneider Williams also officially announced the launch of the 2022 Cure One, Cure Many Award, a research award for the early diagnosis of Lewy body dementia. She spearheaded the initiative in honor of her late husband, comedian Robin Williams, who received the diagnosis of Lewy body dementia after his death. 

The evening also recognized brain disease researchers for their contributions to the field. Honorees included Scientific Breakthrough Award winner Peter Goadsby, MD, PhD, for research leading to the development of new preventive and acute migraine treatments, Potamkin Prize winners Kenneth S. Kosik, MD, and Giovanna Mallucci, MD, PhD, for Research in Pick’s, Alzheimer’s, and Related Diseases, and Sheila Essey Award winner Jan Veldink, MD, PhD, for contributions to ALS epidemiology and genetics.

The event also featured inspiring stories from some of the people living with brain disease, sharing the impact it has on their lives and the lives of their families. 

Commitment to Cures truly exemplifies our commitment to bringing researchers and donors together to cure brain diseases and disorders. To everyone who attended: thank you! You helped us surpass our fundraising goal, raising over $200,000 for brain disease research. 

Relive this exciting night and learn more about the incredible honorees here. We can’t wait for Commitment to Cures 2022!

The American Brain Foundation believes that, one day, we can live in a reality without brain disease—and it all starts with funding research to discover cures. To support our work of connecting scientists with donors, make your gift today.