Studies Of Hereditary Neurological Disease: Disease Gene Identification

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The purpose of this research program is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. A genetic outreach program allows the identification and characterization of patients and families with hereditary neurological diseases. Specific research accomplishments in the past year include collaboration in genetic studies in Mali. Through the Mali collaboration, over 120 families have been evaluated, with more than 20 different genetic diagnoses in 24 families. Our current focus is on the remaining families with phenotypes of interest, autosomal recessive inheritance & consanguinity. Exome sequencing and segregation analysis are done through NISC for candidate gene identification. In the past year, we collaborated in studies of Friedreich ataxia, Charcot-Marie-Tooth disease, and Huntington disease in Mali, families with myoclonic epilepsy due to mutation in ATP6V0A1 in Italy, and a range of different hereditary neurological and neuromuscular diseases seen in the Neurogenetics Clinic at the NIH.