Genetic characterization of atypical parkinsonism

National Institute Of Neurological Disorders And Stroke

Investigators

Linked publications, trials & patents

Abstract

Over the last year, we focused our research efforts on the analysis and generation of several large genomic resources for frontotemporal dementia, Lewy body dementia, multiple system atrophy, and neurologically healthy aged individuals. Toward that end, we have applied a broad set of modern gene-discovery tools to pinpoint genes and cellular pathways that drive disease risk. We additionally have studied the molecular relationships between these complex neurodegenerative disease entities, as this knowledge is particularly informative for the development of disease-modifying treatments. For example, we have found that Lewy body dementia intersects with the risk profiles and pathways described in Parkinson's disease and Alzheimer's disease (Chia et al, Nature Genetics, 2021). We particularly emphasize the rapid sharing of genomic data with the broader research community to accelerate the pace of discovery in these understudied diseases. In summary, we have taken full advantage of the unique opportunities and resources within the Intramural Research Program. We have already gained valuable insights into the molecular underpinnings in complex neurodegenerative diseases and will continue to apply modern genomic approaches to yield actionable data for advancing understanding and translational approaches in atypical parkinsonism syndromes.