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: 9362234
• 负责人: Kenneth Fischbeck
• 金额: $ 72.47万
• 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/9362234
• 关键词: Africa; Biology; Candidate Disease Gene; Collaborations; Consanguinity; Disease; Family; Genes; Genetic; Genetic study; Genomics; Goals; Inherited; Intervention; Mali; Maps; Medical; Neurodegenerative Disorders; Neuromuscular Diseases; Participant; Patients; Phenotype; Procedures; Reporting; Research; Research Personnel; Services; Single Nucleotide Polymorphism Map; United States National Institutes of Health; base; clinically actionable; consanguineous family; effective therapy; exome sequencing; genetic disorder diagnosis; high risk; human genome sequencing; interest; nervous system disorder; novel; outreach program; programs; segregation; tool; working group

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 and in a review of procedures for reporting of secondary genomic findings from exome sequencing. Through the Mali collaboration, 119 families have been evaluated, with 17 different genetic diagnoses in 24 families. Our current focus is on 60 remaining families with phenotypes of interest, autosomal recessive inheritance & consanguinity. Exome sequencing and segregation analysis are done through NISC for candidate gene identification. Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some confer high risk of a serious disease that could be mitigated by timely medical intervention. As part of an intramural NIH working group, we presented a proposal for the formation of a secondary-genomic-findings service that would support researchers by enabling the return of clinically actionable sequencing results to research participants in a standardized manner.

该研究计划的目的是调查遗传神经疾病的原因，目的是为这些疾病开发有效的治疗方法。遗传外展计划允许鉴定和表征患有遗传神经系统疾病的患者和家庭。过去一年中的特定研究成就包括在马里遗传研究方面的合作以及在报告外显子组测序中次级基因组发现的程序中的综述。 通过马里合作，已经评估了119个家庭，在24个家庭中有17个不同的遗传诊断。我们目前的重点是具有感兴趣的表型，常染色体隐性遗传和血缘关系的剩余60个家庭。外显子组测序和隔离分析是通过NISC进行的，用于候选基因鉴定。 人类基因组和外显子组测序是强大的研究工具，可以产生超出研究范围的次要发现。大多数次要基因组发现都很重要，但是有些人赋予了严重疾病的高风险，可以通过及时的医疗干预来减轻这种疾病。作为壁内NIH工作组的一部分，我们提出了一项关于形成次级基因组发现服务的建议，该建议将通过标准化的方式来支持研究人员通过临床可行的测序结果来支持研究参与者。