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Genetic Association Information Network Announces Genotyping Awards for Six Common Diseases

First round of whole genome association studies focuses on disorders of the brain, skin and kidney

Genome Wide Association Studies (GAIN) LogoBETHESDA, Md. - Tues., Oct. 10, 2006 - The Foundation for the National Institutes of Health (FNIH) today announced that six major studies of common diseases have been selected as the first to undergo whole genome analysis by the Genetic Association Information Network (GAIN).

This type of analysis is designed to identify the genetic contributions to common illnesses that affect the public health, such as depression and diabetes. Using biological samples already collected in earlier clinical studies, GAIN will comprehensively evaluate the subtle differences between the genomes of approximately 1,000 - 2,000 normal, healthy volunteers and the genomes of 1,000 - 2,000 patients with the condition being studied. Identifying genetic differences between the two groups will speed up the development of new methods to prevent, diagnose, treat and even cure common conditions.

The Genetic Association Information Network is a unique public-private partnership involving the National Institutes of Health (NIH), Pfizer, Inc., of New York City, Affymetrix, Inc., of Santa Clara, Calif., and the FNIH, as well as Perlegen Sciences, Inc., of Mountain View, Calif., Abbott, of Abbott Park, Ill., and the Broad Institute of Massachusetts Institute of Technology and Harvard University in Cambridge, Mass.. GAIN was established in February, 2006 to help find the genetic causes of common diseases by conducting large-scale genomic studies and making their results broadly available to researchers worldwide. Private donors have contributed approximately $26 million to the project in order to stimulate rapid progress in this field. Companies funding this partnership, however, will not receive any special benefits from GAIN, such as advanced access to the data.

"Public-private partnerships like GAIN bring new scientific and financial resources to the NIH's existing whole genome association programs, accelerating our progress in this important new field of research," said Dr. Charles Sanders, Chairman of the Board of the FNIH. "We're extremely pleased with both the rapid progress of the program and the quality of this first round of studies."

The FNIH Board of Directors selected the first six studies after rigorous peer, technical and ethical reviews and at the recommendation of the GAIN Steering Committee, comprised of twenty-one distinguished scientific leaders from government, academia, and industry. The successful studies, with their principal investigators and affiliated medical institutions, are:

  • Goncalo Abecasis, Ph.D., University of Michigan School of Public Health, Ann Arbor, Mich., "Collaborative Association Study of Psoriasis."

  • Stephen V. Faraone, Ph.D., Research Foundation of the State University of New York (Upstate Medical University), Syracuse, N.Y., "International Multi- Center ADHD Genetics Project."

  • Pablo V. Gejman, M.D., Center for Psychiatric Genetics, Evanston Northwestern Healthcare Research Institute, and Feinberg School of Medicine, Northwestern University Evanston, Ill., "Genome-Wide Association Study of Schizophrenia."

  • John Rice Kelsoe, M.D., University of California, San Diego, School of Medicine, La Jolla, Calif., "Whole Genome Association Study of Bipolar Disorder."

  • Patrick Francis Sullivan, M.D., The University of North Carolina at Chapel Hill, "Major Depression: Stage 1 Genome-wide Association in Population- Based Samples." (The samples were collected as part of the Netherlands Study of Depression and Anxiety and the Netherlands Twin Registry at the Vrije Universiteit (VU), Amsterdam, and the VU Medical Center.)

  • James Heber Warram, M.D., Joslin Diabetes Center, Boston, Mass., "Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes."

The studies were chosen out of nearly three dozen applicants during a rigorous fivemonth selection process. A unique feature was the involvement of a Technical Analysis Group (TAG) that provided a secondary level of evaluation beyond the peer review of written applications. The TAG, which consisted of experts in genetics, epidemiology, bioethics, and data analysis, pre-tested the DNA in study samples, analyzed multiple informed consents, checked case/control matching, and carefully evaluated the study populations of the top-ranked applications that passed peer review.

"GAIN is a critical first step in identifying the genetic factors that influence disease susceptibility and health, and it is essential to choose studies that offer the best possible potential to find these factors in common diseases," said Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute at NIH and chairman of the GAIN Steering Committee. "I'm extremely pleased that GAIN will also be making the results from such high-quality studies in these very important diseases easily available to all researchers."

GAIN will pay for analyzing approximately 18,000 samples across the six diseases, using genotyping services provided by Perlegen Sciences (in partnership with Pfizer) and the Broad Institute (in partnership with Affymetrix) over the next four to eight months. Genotyping uses standardized laboratory procedures to identify genetic variations between individuals. By comparing the frequency of genetic variants across all of the chromosomes in both affected and unaffected persons, researchers can pinpoint hereditary factors that contribute to illness.

As DNA samples from each study are genotyped, the results will be made broadly available to the research community in keeping with the principles pioneered by the Human Genome Project. A portion of the $5 million provided by Pfizer to pay for the overhead of the GAIN project will support development of the GAIN database by The National Center for Biotechnology Information (NCBI), a part of the National Library of Medicine at NIH.

"Immediate, broad release of the scientific data generated by GAIN, with appropriate protections for the privacy of patient data, is critical if we are going to truly facilitate the discovery of new molecular targets for prevention, diagnosis, and treatment," said GAIN Steering Committee member Patrice Milos, Ph.D., Executive Director of Molecular Profiling at Pfizer Global Research and Development, Groton, Conn. "Pfizer is delighted to be a partner with NIH and FNIH in delivering world-class science and in making these data available in a timely way to help the research community and, ultimately, patients."

In addition to free genotyping of their samples, the primary investigators for each of the chosen studies and their institutions will receive additional grants from NIH to support analysis of the new genetic data. For example, a special funding program for type 1 diabetes research established by Congress is contributing support for the study on diabetic nephropathy.

FNIH will also hold a GAIN Analysis Workshop for the selected investigators and their data analysts, as well as known experts in the design and analysis of genetic studies, in the Washington, D.C., area on November 29-30, 2006. The meeting will be open to the entire scientific community.

It is expected that FNIH will seek additional funds beyond those already provided by Pfizer and Abbott to support additional genotyping studies under GAIN.

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. Institutes that are participating in this round of GAIN include the National Human Genome Research Institute, National Institute of Mental Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, and the National Center for Biotechnology Information. NIH 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

The Foundation for the National Institutes of Health is a nonprofit organization authorized by Congress to raise private funds and establish public-private partnerships to support the NIH mission. More information about FNIH can be found at

Pfizer Global Research & Development is the world's largest privately owned biomedical research organization. Pfizer Inc discovers, develops, manufactures and markets leading prescription medicines, for humans and animals, and many of the world's best-known consumer brands. More information about Pfizer can be found at

Affymetrix Inc. (Nasdaq:AFFX) scientists invented the world's first high-density microarray in 1989 and began selling the first commercial microarray in 1994. The microarray technology is used by the world's top pharmaceutical, diagnostic and biotechnology companies, as well as leading academic, government and not-forprofit research institutes. More information about Affymetrix can be found at

Perlegen Sciences, Inc. is a biopharmaceutical company developing genetically targeted medicines. The company has built one of the world's leading genetic analysis capabilities and believes that genetically targeted medicines hold the promise of significantly improving patient care in a wide range of therapeutic areas. The company works with major pharmaceutical companies in a broad range of disease and drug response areas and has begun building its own drug development pipeline. More information about the company can be found by visiting Perlegen's website at

Abbott is a global, broad-based health care company devoted to the discovery, development, manufacture and marketing of pharmaceuticals and medical products, including nutritionals, devices and diagnostics. The company employs 65,000 people and markets its products in more than 130 countries.

The Broad Institute of MIT and Harvard was founded in 2003 to bring the power of genomics to biomedicine. It pursues this mission by empowering creative scientists to construct new and robust tools for genomic medicine, to make them accessible to the global scientific community, and to apply them to the understanding and treatment of disease. The Institute is a research collaboration that involves faculty, professional staff and students from throughout the MIT and Harvard academic and medical communities. It is jointly governed by the two universities. For further information about the Broad Institute, go to

Editor's Note: The FNIH and GAIN Partners will hold a press conference to announce the GAIN awards on Tuesday afternoon, Oct, 10, 2006, at the American Society of Human Genetics annual meeting in New Orleans. The press conference will be held at 3 p.m. Eastern Time (2 p.m. Central Time) in Room 346 of the Ernest N. Morial Convention Center, 900 Convention Center Blvd., New Orleans. Reporters may listen to the press conference by teleconference: USA Toll Free Number: 877-931-3478 or USA Toll Number: 210-515-1631; Passcode: 738275.

Editor's Note: Perlegen closed operations on October 30, 2009.


Geoff Spencer
(301) 402-0911

Charles Pucie
(301) 435-6248

Kate Robins

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Last Reviewed: February 8, 2010

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GAIN Press Conference RealPlayer
The press conference to announce the GAIN awards at the American Society of Human Genetics annual meeting in New Orleans.

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