Researchers at the McKusick-Nathans Institute of Genetic Medicine (IGM) at Johns Hopkins will join other national and international scientists in the 1000 Genomes Project, an ambitious effort that will involve sequencing the genomes of numerous people from around the world to create the most detailed and medically useful picture to date of human genetic variation.
“We have made considerable headway in creating a map of common DNA variation in humans, the HapMap Project, and applied it with great success toward understanding many common diseases,” says Aravinda Chakravarti, Ph.D., professor of medicine, pediatrics and molecular biology and genetics at Hopkins and a member of the IGM. “It is apparent that more detailed maps will speed up disease gene discovery for the many illnesses we still fail to understand. It's crucial to complete the catalog of common variation in DNA, the small fraction of genetic material that varies among people and leads to differences in susceptibility to disease, drug response or reaction to environmental factors, and the 1000 Genomes project will home in on these differences.”
By sequencing the genomes of at least 1,000 people, the project will produce a catalog of genetic variants that are present at 1 percent or greater frequency in the human population across most the genome. The 1000 Genomes Project builds on the human haplotype map - a map of genetic variants - developed by the International HapMap Project. The HapMap already has helped researchers discover more than 100 regions of the genome containing genetic variants associated with risk of common human diseases, such as diabetes, age-related macular degeneration, prostate and breast cancer, and coronary artery disease, including work at Johns Hopkins on sudden cardiac death.
The new map will give researchers important clues to which genetic variants might be causal, including more precise information on where to search for causal variants.