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The newspaper of The Johns Hopkins University October 1, 2007 | Vol. 37 No. 5
Gene-seekers Look at Nature-Nurture in Diseases

By Audrey Huang
Johns Hopkins Medicine

Johns Hopkins' McKusick-Nathans Institute of Genetic Medicine is one of two gene-hunting facilities in the nation to win a new $11.7 million four-year federal grant to rigorously sort out how such environmental factors as diet, exercise, stress and addictions interact with people's individual genetic makeup to affect their risk for disorders as wide-ranging as cancer, diabetes, tooth decay and heart disease.

The Johns Hopkins Center for Inherited Disease Research, a part of the McKusick-Nathans Institute of Genetic Medicine, along with the Broad Institute of MIT and Harvard, will use advanced genotyping technology to identify specific genetic differences between those with and those without particular medical conditions by searching their entire genomes. They will partner with eight teams of scientists from academic institutions around the country who have studied large numbers of people to identify gene and environment interactions in a variety of common disorders. Scientists at the University of Washington will coordinate the efforts of the Genes and Environment Initiative consortium.

"Geneticists have known for some time that common diseases are the outcome of interactions between the genes we're born with and how they respond to a lifetime of exposure to the environment around us," said David Valle, director of the Center for Inherited Disease Research and the Henry J. Knott Professor and Director of the Institute of Genetic Medicine. "But now that advances in technology and science have given us the tools to rapidly search whole genomes and to enumerate the millions of specific genetic differences between individuals, we can compare these differences between people who have a disease and those who do not. What is exciting about this project is that the investigators will also be keeping track of differences in environmental exposures. In this way, we will begin to learn how genetic variation, lifestyle, behavior and other environmental variables contribute to health and disease."

The Center for Inherited Disease Research, established in 1996, brings together scientists who specialize in genetics, genomics, molecular biology, statistics, medicine and bioinformatics to identify genes that contribute to so-called complex disorders, defined as common human diseases known to result from variations in many of our 22,000 genes as well as such external, environmental risk factors as smoking, air pollution, infections, drugs and nutrition.

In 2003, the center and the Institute of Genetic Medicine's Genetic Resources Core Facility teamed up to offer high-throughput genotyping as well as other services necessary for genomewide association studies, including DNA isolation, amplification and quantitation, which will be offered as part of the Genes and Environment Initiative program.

Among other approaches, Hopkins' CIDR specialists and the members of the GEI consortium will overlay individual variations in genomes with individual environmental histories to find patterns of associations and hunt down "connections" that occur most frequently in patients compared to a control population.

Elias A. Zerhouni, director of the National Institutes of Health, said, "Genomewide association studies have proven themselves to be powerful tools for discovering the genetic contributions to common diseases. Early findings from such studies have identified new genetic variants contributing to a higher risk of common diseases such as prostate cancer, diabetes and heart disease, but researchers have only scratched the surface," he said. "The genetic studies being funded today will identify many novel genetic variants contributing to an increased risk for these health conditions."


Related Web sites

McKusick-Nathans Institute of Genetic Medicine
The Center for Inherited Disease Research at Johns Hopkins
National Human Genome Research Institute


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