Rush University Medical Center
2014 Clinical Research Training Fellowship in Ataxia Cosponsored by the American Brain Foundation and the National Ataxia Foundation
Target brain disease(s): Ataxia (movement disorders)
Project goal: The goal of this research is to evaluate different genetic patterns in patients with Fragile X-associated tremor/ataxia syndrome (FXTAS).
Project description: FXTAS is an inherited disease causing tremor and problems with walking. There is a critical need for enhanced screening tools to help families of patients suffering from this late-onset disorder, so timely treatment can be implemented. About 1.6 of every 2,000 men in the United States are at risk for developing FXTAS; the rate is lower for women. Overall, research into this disease is in the very early stages. If successful, this research project would enable us to predict if patients will develop symptoms of the disease or remain symptom free.
Funding: Received $130,000 in research funds.