Studies Of Hereditary Neurological Disease: Disease Gene Identification

该研究计划的目的是调查遗传性神经系统疾病的原因，目的是为这些疾病开发有效的治疗方法。遗传外展计划允许识别和描述遗传性神经系统疾病的患者和家庭。过去一年的具体研究成果包括在马里进行遗传研究方面的合作。 通过马里的合作，对120多个家庭进行了评估，对24个家庭进行了20多种不同的遗传诊断。我们目前的重点是剩余的家庭与表型的利益，常染色体隐性遗传和血缘关系。通过NISC进行外显子组测序和分离分析，用于候选基因鉴定。 在过去的一年里，我们合作研究了马里的弗里德赖希共济失调、夏科-玛丽-图思病和亨廷顿病，意大利的ATP 6V 0A 1突变导致的肌阵挛性癫痫家族，以及NIH神经遗传学诊所发现的一系列不同的遗传性神经和神经肌肉疾病。

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.