November 4, 2005

HapMap project helps simplify the search for disease-related genes

Last week's completion of the first phase of the Haplotype Map (HapMap) Project marked a turning point in the application of genomic information to understanding and treating common diseases. A central paper describing the project's work was published in the Oct. 27 issue of Nature, with David Altshuler, MD, PhD, of the MGH Center for Human Genetic Research (CHGR), Molecular Biology and the Diabetes Unit, as co-corresponding author. Altshuler, Mark Daly, PhD, also of the CHGR, and colleagues published three other papers simultaneously in Nature Genetics, PLoS Biology and Genome Research describing patterns of common genetic variation in DNA samples from volunteers in specific regions of Nigeria, China, Japan and the U.S. Their findings confirm the tendancy of genetic variants to be inherited together in blocks known as haplotypes and address the application of this work to disease research and studies of human evolution.

"The HapMap is a powerful new tool for exploring the root causes of common disease and is already being used by MGH researchers to search for genes that cause type 2 diabetes, bipolar disorder and cancer," says Altshuler. While it is well known that serious diseases can run in families, understanding the impact of inheritance has been challenging, since it can involve the interactions of many genes. The HapMap effort succeeded in mapping more than 1 million genetic markers that will help narrow areas of focus for researchers.

"The project's data is particularly valuable to groups of investigators that bring together expertise in clinical medicine, genomics and statistics — exactly what now exists at the MGH in the CHGR and in other programs," says Daly. "We are tremendously eager to get going with colleagues across the MGH and Boston."