Genome-Wide Association Study on Parkinson's Disease Finds Public Home at NIH 
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."
The Mayo-Perlegen LEAPS Collaboration study will be added to dbGaP, the 
database of Genotypes and Phenotypes (http://view.ncbi.nlm.nih.gov/dbgap) 
operated by the National Library of Medicine's National Center for 
Biotechnology Information. dbGaP contains individual-level data on genotype, 
an individual's genetic makeup, and phenotype, observable traits and 
characteristics. The Mayo-Perlegen LEAPS Collaboration is the second dataset 
on Parkinson's disease available through dbGaP. The first was the 
NINDS-Genome-Wide Genotyping in Parkinson's Disease: First Stage Analysis and 
Public Release of Data, which is  available through dbGaP at 
http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000089. It 
was supported by NINDS and conducted by researchers at the National Institute 
of Aging, another component of NIH.
"The Michael J. Fox Foundation is committed to spurring innovation by creating 
every possible opportunity for researchers to collaborate and share their 
knowledge," said Katie Hood, chief executive officer of The Michael J. Fox 
Foundation. "We are hopeful that NIH's initiative in hosting the 
Mayo-Perlegen data will accelerate efforts to identify genetic factors 
underlying Parkinson's 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. 
For researchers who want to view the Mayo-Perlegen LEAPS Collaboration data, 
dbGaP offers two levels of access. The first is open access, where certain 
data are available without restriction, and the second is controlled access, 
which requires authorization. The open-access section allows users to view 
study documents that do not risk identifying individual participants, such as 
protocols and summaries of genotype and phenotype data. The controlled-access 
portion of the database allows approved researchers to download 
individual-level genotype and phenotype data from which the study 
participants' personal identifiers, such as names, have been removed. 
"Providing the Mayo-Perlegen LEAPS Collaboration data through dbGaP will give 
researchers new opportunities to investigate genetic factors in Parkinson's 
disease," said Donald A.B. Lindberg, M.D., director of the National Library 
of Medicine. "By sharing their data, the study investigators and study 
subjects are not only aiding in the research effort for Parkinson's disease, 
but they are helping provide the foundation for researchers to do analyses 
across multiple studies looking for genetic variations associated with health 
and disease." 
NHGRI's DAC has agreed to manage data access for all genome-wide association 
studies submitted to dbGaP that are not associated with other NIH Institutes, 
including studies submitted by corporate entities. "Taking on all these 
orphan studies will result in significantly more data being available through 
dbGaP and will greatly enhance the discovery opportunities for researchers 
mining these data," said David Lipman, M.D., Director of NCBI.
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.
Although personally identifying information is not included in the database, 
concern remains that it may someday be possible to identify someone based on 
their genetic profile. For this reason only researchers agreeing not to 
attempt to identify individuals in the database will be given access to the 
data, as outlined in NIH's Policy for Sharing of Data Obtained in NIH 
Supported or Conducted Genome-Wide Association Studies (GWAS) available at 
http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-088.html.
Researchers interested in submitting similar datasets to dbGaP should contact 
dbGaP staff at [log in to unmask] The institutional certification 
that NHGRI will require for submitting datasets is also described in NIH's 
Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide 
Association Studies (GWAS) at the link above.
The Michael J. Fox Foundation for Parkinson's Research is dedicated to 
ensuring the development of a cure for Parkinson's disease through an 
aggressively funded research agenda. To date, the Foundation has funded more 
than $115 million in research.
NHGRI is one of 27 institutes and centers at the NIH, an agency of the 
Department of Health and Human Services. The NHGRI Division of Extramural 
Research supports grants for research and for training and career development 
at sites nationwide. Additional information about NHGRI can be found at its 
Web site, www.genome.gov.
The National Center for Biotechnology Information (NCBI) was established in 
1988 as a national resource for molecular biology information.  NCBI creates 
public databases, conducts research in computational biology, develops 
software tools for analyzing molecular and genomic data, and disseminates 
biomedical information, all for the better understanding of processes 
affecting human health and disease. NCBI is a division of the National 
Library of Medicine, the world's largest library of the health sciences. For 
more information, visit www.nlm.nih.gov.
The National Institutes of Health (NIH) — The Nation's Medical Research Agency 
— includes 27 Institutes and Centers and is a component of the U.S. 
Department of Health and Human Services. It is the primary federal agency for 
conducting and supporting basic, clinical and translational medical research, 
and it investigates the causes, treatments, and cures for both common and 
rare diseases. For more information about NIH and its programs, visit 
www.nih.gov.

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