Assessment of Candidate Loci in Neurological diseases

神经系统疾病候选基因座的评估

• 批准号: 10005778
• 负责人: Andrew Singleton
• 金额: $ 63.23万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 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/10005778
• 关键词: Alzheimer' s Disease; Ataxia; Disease; Dystonia; Family; Frontotemporal Dementia; Genes; Genetic; Individual; Link; Maps; Molecular; Motor Neuron Disease; Multiple System Atrophy; Mutation; Parkinson Disease; Primary Lateral Sclerosis; Process; Variant; Work; alpha synuclein; experimental study; genome wide association study; insight; nervous system disorder; novel; risk variant

We continue to perform an assessment of candidate loci for various diseases, including alzheimer's disease, frontotemporal dementia, motor neuron diseases, ataxia, parkinson's disease, and dystonia. This work allows us to parse such families into those with known mutations, and those that should be prioritized for further genetic work aimed at finding new genetic causes of disease, moreover this work allows us to fine map, and to find functional variation at candidate risk loci found through genome wide association. We have performed several studies that aim to define the underlying functional variant at existing risk loci, and to define functional classes of risk genes. Over the past period this work has focused on the TMEM175, SNCA, and lysosomal-linked loci.

我们继续对各种疾病的候选位点进行评估，包括阿尔茨海默病、额颞叶痴呆、运动神经元疾病、共济失调、帕金森病和肌张力障碍。这项工作使我们能够将这些家族解析为那些具有已知突变的家族，以及那些应该优先进行进一步遗传工作的家族，旨在寻找新的疾病遗传原因，此外，这项工作使我们能够精细绘制图谱，并找到通过全基因组关联发现的候选风险位点的功能变异。 我们进行了几项研究，旨在定义现有风险位点的潜在功能变异，并定义风险基因的功能类别。过去一段时间，这项工作主要集中在 TMEM175、SNCA 和溶酶体相关位点。