What we Know:
Neuromuscular disorders (NMDs)are a diverse group of disorders that can target muscles, the brain, or the connections between the two. Dysfunction or degeneration of muscles or the neural pathways controlling them causes patients with an NMD to experience rigidity, uncontrollable movements, weakness, paralysis, and may also be lethal. These patients often have to undergo muscle biopsies to determine which specific disease they have, and the results are not always conclusive. This can cause stress for patients and their loved ones when they can obtain an understanding of what is wrong or how to treat it.
Improved Understanding and Hope for Treatment:
The researchers hypothesize that many NMDs are mediated by rare genetic variation, and that disease genes and pathways related to proper neuromuscular development and function have not yet been identified. Dr. Pehlivan and his colleagues plan to use rigorous DNA and RNA sequencing methods to identify specific changes that could underlie NMDs. Using these techniques in a previous study, Dr. Pehlivan and his team were able to diagnose more than 50% of the patients who previously had inconclusive results.
By continuing these studies, Dr. Pehlivan hopes to expand the ability to diagnoses these cases to even more patients with an NMD. This research could lower the need for unnecessary biopsies and help avoid the use of ineffective treatments.
Our Plan to Help:
The American Brain Foundation, with your help, will give Dr. Pehlivan the resources he needs to aid the diagnosis and understanding of complex and rare disorders. Dr. Pehlivan and his team hope that their efforts will improve patient diagnosis, cost of care, and treatment outcomes. In addition, these new discoveries could aid in the development of new drugs to treat NMDs.
How You Can Help:
By donating to Dr. Pehlivan’s research through the American Brain Foundation, you would be directly contributing to the improved diagnosis and treatment of these challenging conditions that impact many Americans and their families.