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Genetic risk for Alzheimer's disease: an emerging role for rare variants

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Air date: Monday, May 11, 2015, 12:00:00 PM
Time displayed is Eastern Time, Washington DC Local
Views: Total views: 322 (39 Live, 283 On-demand)
Category: Neuroscience
Runtime: 01:05:48
Description: Neuroscience Seminar Series

Research in Dr. Goateā€™s laboratory focuses on dementia (Alzheimer's disease & frontotemporal dementia) and addiction (alcohol dependence). In each of these projects their goal is to understand the molecular basis of disease in order to identify novel targets for therapeutic development. They use genetic and genomic approaches to identify susceptibility alleles, this work includes genome wide association studies and whole genome/exome sequencing in families multiply affected by disease and in case control cohorts. They have also pioneered the use of endophenotypes to uncover both risk and protective alleles in both their Alzheimer's disease and their alcoholism studies. They have developed induced pluripotent stem cells from individuals with known genetic causes of disease in order to model the effects of these mutations in disease relevant cell types. Functional studies are being undertaken to understand the role of phospholipase D3 variants in Alzheimer's Disease risk, tau mutations in frontotemporal dementia and alpha 5 nicotinic receptor variants in addiction.
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NLM Title: Genetic risk for Alzheimer's disease : an emerging role for rare variants / Alison Goate.
Author: Goate, Alison M.
National Institutes of Health (U.S.),
Publisher:
Abstract: (CIT): Neuroscience Seminar Series Research in Dr. Goate's laboratory focuses on dementia (Alzheimer's disease & frontotemporal dementia) and addiction (alcohol dependence). In each of these projects their goal is to understand the molecular basis of disease in order to identify novel targets for therapeutic development. They use genetic and genomic approaches to identify susceptibility alleles, this work includes genome wide association studies and whole genome/exome sequencing in families multiply affected by disease and in case control cohorts. They have also pioneered the use of endophenotypes to uncover both risk and protective alleles in both their Alzheimer's disease and their alcoholism studies. They have developed induced pluripotent stem cells from individuals with known genetic causes of disease in order to model the effects of these mutations in disease relevant cell types. Functional studies are being undertaken to understand the role of phospholipase D3 variants in Alzheimer's disease risk, tau mutations in frontotemporal dementia and alpha 5 nicotinic receptor variants in addiction.
Subjects: Alzheimer Disease--genetics
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Publication Types: Lecture
Webcast
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Caption Text: Download Caption File
NLM Classification: WT 155
NLM ID: 101660630
CIT Live ID: 15052
Permanent link: https://videocast.nih.gov/watch=15052