Assessment of Candidate Loci in Neurological diseases

$632,275ZIAFY2019AGNIH

National Institute On Aging

Investigators

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Abstract

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.

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