Studies Of Hereditary Neurological Disease: Disease Gene Identification

遗传性神经疾病的研究：疾病基因鉴定

• 批准号: 7969580
• 负责人: Kenneth Fischbeck
• 金额: $ 98.86万
• 依托单位: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7969580
• 关键词: Africa; Autoimmune Process; Biology; Candidate Disease Gene; Charcot-Marie-Tooth Disease; Chromosomes, Human, Pair 19; Disease; Evaluation; Family; Genes; Genetic; Goals; Hereditary Spastic Paraplegia; Inherited; Lafora Disease; Mali; Maps; Mutation; Myasthenia Gravis; Neurodegenerative Disorders; Patients; Research; Single Nucleotide Polymorphism Map; Spinocerebellar Ataxias; base; effective therapy; nervous system disorder; neuromuscular; novel; outreach program; programs

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 the evaluation of novel mutations for lafora body disease and spinocerebellar ataxia type 20, and candidate genes for familial autoimmune myasthenia gravis (ENOX), Charcot-Marie-Tooth disease type 2C (TRPV4), and a new form of hereditary spastic paraplegia mapped to chromosome 19.

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评估Lafora躯体疾病和脊髓小脑性共济失调20型的新突变，以及家族性自身免疫性重症肌无力(Enox)、2C型夏科-玛丽-图思病(TRPV4)的候选基因，以及定位于19号染色体的一种新形式的遗传性痉挛截瘫。