Studies Of Hereditary Neurological Disease: Disease Gene Identification

这项研究计划的目的是调查遗传性神经系统疾病的原因，以开发有效的治疗这些疾病的目标。遗传外展计划允许识别和表征遗传神经疾病的患者和家庭。过去一年的具体研究成果包括在马里开展的遗传研究合作。

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.