Assessment of Candidate Loci in Neurological diseases

我们继续对各种疾病的候选基因座进行评估，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庭解析为具有已知突变的家庭，以及那些应该优先进行进一步的遗传工作以寻找新的疾病遗传原因的家庭，此外，这项工作使我们能够精细地绘制地图，并发现通过基因组广泛关联发现的候选风险位点的功能变异。

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.