Scientists in the Laboratory of Neurogenetics at the National Institute on Aging (NIA)—in collaboration with the National Institute of Neurological Disorders and Stroke (NINDS), and the Coriell Institute for Medical Research (CIMR)—recently produced a new valuable genetic resource, the first-ever genetic sequencing of people who are neurologically normal.
In genetic studies, people with a disorder (“cases”) are often compared to people who do not have the disorder (“controls”). However, individuals who serve as controls are not always evaluated for the disorder, nor for other neurological problems. This new genetic resource is important in that it characterizes the genetic makeup of a large group of people who have already been found to have healthy brains.
Production of this control data is the first part of a larger study to generate whole genetic data on individuals with Parkinson’s disease and stroke, and on normal individuals with no neurological disorders. This control group will serve as an important comparison to allow gene discovery in neurological disorders. It is the first study of its kind in well-characterized subjects.
In the study, investigators completed a whole genetic sequence on 276 North American Caucasian neurologically normal controls—those without neurological disease and with no family history of neurological disease in any first-degree relative.
The first set of genotyping data is now publicly available, along with detailed clinical data from the NINDS-funded Neurogenetics Repository at CIMR. Clinical data are also available for all subjects and include a detailed medical and family history and, in most cases, a neurological examination and a normal Folstein Mini-Mental Status examination score (a test for dementia). (None of the subjects has a history of neurological illness, or a family history suggestive of a Mendelian pattern of neurological disorder inheritance.)
All samples—which are roughly 50 percent male and 50 percent females, with an age range of 55 to 88 years—are available, and were specifically designed to act as controls for the study of the genetics of late-onset neurological disorders.
There is no restriction on the use of this clinical or genotyping data by researchers other than that the data must not be used to identify any subject, and all publications arising from this work must acknowledge the NINDS-funded Neurogenetics Repository and the NIA Laboratory of Neurogenetics.
For more information, researchers should contact Dr. Katrina Gwinn-Hardy, Program Director, Neurogenetics Cluster, NINDS, Neuroscience Center, 6001 Executive Boulevard, Room 2143, Bethesda, MD 20892; telephone: 301-496-5745; fax: 301-402-1501; e-mail: email@example.com, or visit the NINDS Neurogenetics Respository website at http://locus.umdnj.edu/ninds.