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患有遗传性神经疾病的患者和家庭的特征。过去一年的具体研究成果包括马里在基因研究方面的合作。 通过马里合作，对120多个家庭进行了评估，在24个家庭中进行了20多种不同的基因诊断。我们目前的重点是剩下的具有感兴趣的表型、常染色体隐性遗传和血缘关系的家庭。外显子组测序和分离分析通过NISC进行候选基因的鉴定。 在过去的一年里，我们合作研究了马里的Charcot-Marie-Tooth病和遗传性痉挛截瘫，以及在NIH神经遗传学诊所看到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 Charcot-Marie-Tooth disease and hereditary spastic paraplegia in Mali and a range of different hereditary neurological and neuromuscular diseases seen in the Neurogenetics Clinic at the NIH.