Genetic characterization of atypical parkinsonism

National Institute Of Neurological Disorders And Stroke

Investigators

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Abstract

The Neurodegenerative Diseases Research Unit (NDRU) focuses on atypical parkinsonism syndromes to unravel molecular genetic mechanisms involved in the pathophysiology of parkinsonism, to study molecular relationships to more common neurodegenerative diseases and to discover targets for rational therapeutic development. NDRU is highly-collaborative and data-driven, combining interdisciplinary clinical and genomic research toward improving knowledge about parkinsonism syndromes. Over the last year, we have undertaken three main projects. 1. Genetic characterization of pathologically confirmed neurodegenerative diseases: We performed genotyping of pathologically confirmed neurodegenerative diseases using the Illumina NeuroChip array. These data are being used for machine learning applications and genotype-phenotype correlations. 2. Genome sequencing of non-Alzheimer dementia cases and neurologically healthy individuals: NDRU is a leading member of an ambitious intramural genome sequencing project that will generate a unique resource for genetic research. Specifically, this project will produce genome sequence data of 3000 Lewy body dementia cases, 3000 frontotemporal dementia cases and 2000 neurologically healthy controls. The overall aim of this ongoing project is to expand genetic discovery efforts to non-Alzheimer dementias. All data will be made available to the research community. 3. Genome-wide association study in multiple system atrophy: To investigate common genetic variants in multiple system atrophy, we are currently performing a follow up genome-wide association study.