Data from one of the first genome-wide association studies (GWAS), which focused on Parkinson's diseases and was funded in part by The Michael J. Fox Foundation for Parkinson's Research (MJFF), is now being made available to researchers through the National Human Genome Research Institute (NHGRI) and the National Center for Biotechnology Information (NCBI), of the National Institutes of Health (NIH). NHGRI hopes to speed up research by making previously unavailable GWAS data sets publicly available to the research community.
The study, conducted by researchers at Mayo Clinic in Rochester, Minn., in collaboration with scientists at Perlegen Sciences, Inc., in Mountain View, Calif., was the first genome-wide association study applied to Parkinson's disease. It was funded under MJFF's Linked Efforts to Accelerate Parkinson's Solutions (LEAPS) initiative.
"Until now, the individual-level data from this study had been available only to a few researchers," said Teri Manolio, M.D., Ph.D., director of the NHGRI Office of Population Genomics. "This is the first orphan data set NHGRI is adopting to make public through NCBI, but it certainly will not be the last. We appreciate the willingness of the LEAPS researchers and patients to share their data with the rest of the research community and hope it will increase our understanding of Parkinson's disease."
The raw data from a GWAS study is frequently useful to other researchers who may combine it with their own data to improve the analytical power and even make new discoveries. But such information may not be deposited in unregulated public databases because the data typically contain details that could be used to identify study volunteers, potentially violating their confidentiality. In order to protect the volunteers' confidentiality, NIH requires the data submitters to remove identifying information (names, social security numbers, etc.). In addition, researchers who want to use the data must ask for permission and agree to other data use limitations, such as safeguarding participants' privacy and using the data in ways consistent with consent agreements signed by study subjects. The researcher requests are then reviewed by a data access committee or DAC. Data access committees have been established at several NIH institutes that organize and support GWAS. Because this project was primarily supported by a private foundation, it lacked a DAC to review access requests, so it was considered an orphan data set.
NHGRI's data access committee recently agreed to adopt the study and manage the data access approval process so that the data could be made widely available while ensuring appropriate protections.
"It's wonderful that NHGRI has agreed to facilitate access to this data by researchers around the globe working on Parkinson's disease," said Demetrius Maraganore, M.D., a neurologist at Mayo Clinic and lead principal investigator who provided the Mayo-Perlegen LEAPS data to the dbGaP database on behalf of his collaborators. "Our hope is that these data will be used to make breakthroughs in the prevention and treatment of this devastating disease."
Additional funding for the work was also provided by the National Institute of Environmental Health Sciences (NIEHS) and the National Institute of Neurological Disorders and Stroke (NINDS), both part of the NIH. The Mayo-Perlegen LEAPS Collaboration study was published online in September 2005 in the American Journal of Human Genetics.
Researchers interested in accessing the Mayo-Perlegen LEAPS Collaboration study dataset should go to dbGaP's Web site and complete a request for access to the individual-level data at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000048. Information on data access request procedures is available through the dbGaP "controlled access" Web page, at http://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?login=&page=login.