Genetic Association Information Network launched

The information derived from GAIN will be publicly available to researchers worldwide.

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 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.

The Foundation for NIH will manage GAIN with guidance from leading scientists from the U.S. 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 5 common diseases. The genotyping services provided by Pfizer will come from its partnership with Perlegen Sciences, Inc., of Mountain View, California.

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.

The genetic analysis focuses on single nucleotide polymorphisms or SNPs - that normally occur in the sequence of the 3 billion bases that make up a human genome. Most of these variations 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 3 billion DNA letters that make up the human genome," said Francis S. Collins, MD, PhD, director of the National Human Genome Research Institute 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."

An investment of $3-6 million is needed for the first stage of genotyping in each study of 1000-2000 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, 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.

Message posted by: Simon Chandler