Genetic Variations In Parkinson's Disease

Scientists at the National Institutes of Health (NIH) have completed one of the first large-scale studies of the role of common genetic variation in Parkinson's disease (PD). While the results fill in some missing pieces of the genetic puzzle, they are primarily of benefit as a starting point for more detailed studies. The information generated by the study is now publicly available in a database that will serve as a valuable research tool for the future.

The study was led by scientists at the National Institute of Aging (NIA) and National Institute of Neurological Disorders and Stroke (NINDS). The data were derived from blood samples of 267 people with PD and 270 neurologically normal individuals. These samples were made available by The NINDS Human Genetics Resource Center at the Coriell Institute (http://ccr.coriell.org/ninds), a publicly-funded bank for human cells, DNA samples, clinical data, and other information that aims to accelerate research on genetics of disorders of the nervous system. Results of the study appear in the September 27, 2006, early online publication of The Lancet Neurology.

"This is, to my knowledge, the first publicly available genotype data of this magnitude outside of the International HapMap effort, and certainly the first disease-linked dataset. I hope that this will prove to be a valuable resource for future genetics work in Parkinson's disease, both for our laboratory and for other scientists around the world," says Andrew Singleton, Ph.D., the NIA researcher who led the study. "The use of neurologically normal controls from the NINDS neurogenetics repository means that these data can be readily used as a control group in future large scale SNP studies performed in a number of other neurological diseases".

"The NINDS Human Genetics Resource Center has created a resource that allows broad sharing and access to phenotypic and genotypic data, as well as biological samples, with no restrictions. This approach to open, public sharing of genetic materials and data is unprecedented. It will allow scientific progress in the field of genetics to proceed in a much faster way, and in ways we can't even currently anticipate," says Katrina Gwinn-Hardy, M.D., the NINDS program contact for the Human Genetics Resource Center and an author on the paper.


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