Genetic Association Information Network Launched

Novel Public-Private Partnership Created to Unravel the Genetics Of Common Disease Through Whole Genome Association Studies

WASHINGTON - Wed., Feb. 8, 2006 - The Foundation for the National Institutes of Health (FNIH), the National Institutes of Health (NIH), and Pfizer Global Research & Development, New London, Conn., today announced the launch of a unique public-private medical research partnership - the Genetic Association Information Network (GAIN) - to unravel the genetic causes of common diseases over the next three years. The information derived from GAIN will be publicly available to researchers world-wide.

GAIN brings new scientific and financial resources to the NIH's existing whole genome association programs, encouraging all partners - across and beyond NIH - to work together toward the common goal of understanding the genetic contributions to common diseases. Organizers of the GAIN partnership believe the model holds promise of achieving rapid, scientifically sound results that any single researcher or institution working alone would be hard-pressed to equal.

GAIN is designed to help medical researchers quickly identify the many genetic contributions to common illnesses such as heart disease, Alzheimer's disease, diabetes, osteoarthritis and stroke by comparing the genetic makeup of people with the disease to people who are healthy. Identifying genetic differences between these two groups will speed up the development of new methods to prevent, diagnose, treat and even cure common illnesses.

"Our partnership with pharmaceutical and biotech companies to speed up this research exemplifies the aim Congress had in mind when it established the Foundation for the National Institutes of Health to support the mission of NIH," said John E. Porter, Vice Chairman of the Foundation's Board of Directors. "Through the generous financial support of Pfizer and other private sector participants, NIH will now be able to launch immediately this exciting initiative. As with other large FNIH public-private partnerships, such as the Grand Challenges in Global Health, the interaction of scientists from the public and the private sector dramatically increases the likelihood that this initiative will get off to a quick and efficient start that will genuinely produce important advances for all patients."

The Foundation for NIH will manage GAIN with guidance from leading scientists from the National Institutes of Health and Pfizer, as well as outside experts and project partners. Pfizer has led the private sector by committing scientific and financial support, including an initial $5 million to set up the management structure for GAIN, plus an estimated $15 million in genotyping capacity to study five common diseases. The genotyping services provided by Pfizer will come from its partnership with Perlegen Sciences, Inc., of Mountain View, Calif.

"We've translated early information from genetic research into potentially valuable medicines for HIV/AIDS, heart disease, and prevention of organ rejection, but these advances have only scratched the surface of possible revolutionary approaches to treat and cure diseases," said Martin Mackay, Senior Vice President Worldwide Research & Technology, Pfizer Research & Development. "Pfizer, the NIH and other public/private biomedical research interests have complementary missions greater than the sum of their parts. Our hope is that this public/private initiative will encourage a deeper collective understanding of the genetic factors of disease, for major new therapeutic advances."

In addition, Affymetrix, Inc., a Santa Clara, CA company that provides tools for use in genomics-related research, has agreed to provide its support to GAIN by donating 500K DNA microarrays, which will be used to find the genetic variations associated with two common diseases. FNIH is actively seeking additional partners, and anticipates strong interest in participating in GAIN among other industry leaders, disease advocacy groups, and philanthropists to enable the investigation of additional diseases.

The GAIN initiative proposes to raise $60 million in private funding for genetic studies of common diseases. The initiative does not require new expenditures of public funds nor will it be implemented at the expense of any existing or pending publicly funded biomedical research programs.

"This initiative would not have been technologically possible only a year or two ago," said Elias A. Zerhouni, M.D., Director of the NIH, an agency within the Department of Health and Human Services. "Over many years, NIH has spent billions of dollars to collect and study patient populations with a wide range of illnesses which can easily be part of this initiative. In addition, we now have the results of the Human Genome Project and the International HapMap Project to guide us, and we can apply newly available technologies, developed with NIH support, that have reduced the cost of genotyping more than 100-fold, making such a comprehensive effort affordable."

Dr. Zerhouni added: "We now stand on the threshold of creating a future that will revolutionize the practice of medicine by predicting disease, developing more precise therapies and, ultimately, pre-empting the emergence of disease."

The genetic analysis focuses on the alternative spellings - called single nucleotide polymorphisms or SNPs - that normally occur in the sequence of the 3 billion DNA letters that make up a person's genome. SNPs are like single-letter variations in the spellings of a word. Most of these variations occur at single letters in the genetic code and are biologically meaningless. But a small fraction of these differences alter the function of a gene - often only slightly. Combining the effect of many slightly altered genes may significantly increase the risk of a specific disease, but identifying such a complex set of genetics differences is challenging. Finding these disease-causing variants is one of the highest priorities of current biomedical research.

"Virtually all diseases have a hereditary component, which is transmitted from parent to child through the three billion DNA letters that make up the human genome," said Francis S. Collins, M.D., Ph.D., Director of the National Human Genome Research Institute (NHGRI) at NIH. "But progress in identifying the genetic factors that influence health or disease, or even the response to treatment, has been difficult. This initiative promises to identify rapidly the many genes in an individual that, taken together, contribute to an increased risk of illness - or that increase the chances of a healthy life. As these genetic underpinnings become clear, researchers will be empowered to develop targeted treatments that either prevent illness from occurring or treat it effectively once it does."

There are about 10 million common SNPs in the human population. Scanning the genomes of large numbers of patients for such a large number of variants would be prohibitively expensive. Fortunately, a major shortcut has been discovered that reduces the workload about 30-fold. The International HapMap Project, led by the NIH and completed in October 2005, demonstrated that the 10 million variants cluster into local neighborhoods, called haplotypes, and that they can be accurately sampled by as few as 300,000 carefully chosen SNPs. New technological systems allow these SNPs to be systematically studied in high-throughput facilities that dramatically lower the cost.

An investment of $3 to $6 million is needed for the first stage of genotyping in each study of 1,000 to 2,000 patients with a specific disease and a similar number of people who do not have the disease (controls). Follow-up studies to validate the results with additional patients and controls, data analysis, and patient management expenses-efforts beyond the scope of GAIN-will add to these basic costs. It is important to note, however, that these costs are a small fraction of what has already been invested by the NIH in enrolling these study subjects, examining them, carrying out extensive laboratory investigations, and collecting their DNA.

The foundation will invite investigators at universities and research centers worldwide to submit applications to have genotyping performed on existing DNA samples from patients with specific diseases and control individuals in case-control studies. The genotyping will be free to the investigators. The genetic results will be made available to any qualified scientists to use. FNIH expects to begin accepting applications for genotyping in spring 2006. Eligibility and online submission procedures will be posted on the Foundation for NIH Web site,

In addition to representatives from NIH, Pfizer, and leading independent scientists, GAIN's leadership will include representatives of other partnering corporations, private foundations, and advocacy groups, as well as concerned individuals. The project will be guided by a steering committee representing all partners and coordinated by the FNIH. A peer review committee and technical advisory board will provide additional scientific rigor to the project.

The Foundation for the National Institutes of Health was established by the United States Congress to support the mission of the National Institutes of Health - improving health through scientific discovery. The foundation identifies and develops opportunities for innovative public-private partnerships involving industry, academia, and the philanthropic community. A non-profit, 501(c)(3) corporation, the foundation raises private-sector funds for a broad portfolio of unique programs that complement and enhance NIH priorities and activities. The foundation's Web site address is

The National Institutes of Health -- "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

The National Human Genome Research Institute is one of the 27 Institutes and Centers that make up the National Institutes of Health. NHGRI led the NIH's portion of the Human Genome Project, which was completed in 2003, and the International Hapmap Project, which was completed in 2005. NHGRI now works to translate genetic knowledge into medical advances. Additional information about NHGRI 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

FNIH Contact:
Charles Pucie

(301) 435-6248

NIH Contact:
NIH Press Office

(301) 496-5787

NHGRI Contact:
Geoff Spencer

(301) 402-0911

Pfizer Contact:
Kate Robins

(860) 732-9684

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Last Reviewed: May 8, 2012