Coriell Institute Awarded $3.1 Million NHGRI Contract For Next Phase of the HapMap Project.

CAMDEN, N.J. -- The Coriell Institute for Medical Research was recently awarded a $3.1 million contract from the National Human Genome Research Institute (NHGRI) to establish a Sample Repository for Human Genetic Research. Donald L. Coppock, Ph.D., is the Principal Investigator (PI) for the new repository.

The new repository will house samples for genetic research, including the samples collected for the International HapMap Project. The NHGRI initially worked with the Human Genetic Cell Repository at Coriell, which is sponsored by the National Institute of General Medical Sciences (NIGMS), to establish, store and distribute the cell lines and DNA studied to develop the HapMap, a comprehensive description of the patterns of human genetic variation that has been placed in the public domain. According to Lisa Brooks, Ph.D., NHGRI Genetic Variation Program Director, the HapMap is "a landmark achievement that is already accelerating the search for genes involved in common diseases, such as asthma, diabetes, cancer, and heart disease."

"We are exceptionally pleased to have been selected by NHGRI," said Joseph L. Mintzer, Coriell executive vice president and chief operating officer. "Our involvement with the HapMap Project is indicative of the Coriell Institute's mission and commitment to scientific research, cell banking, and education to improve the health of humankind."

In the first phase of developing the HapMap, researchers mapped the common patterns of variation in the human genome, called "haplotypes," using DNA from cell lines prepared from blood samples collected from 270 volunteers from four major world populations: people in Utah descended from individuals from Northern and Western Europe; the Yoruba in Ibadan, Nigeria; Han Chinese in Beijing, China; and Japanese in Tokyo, Japan. The cell lines from the Yoruba, Han Chinese and Japanese samples were prepared at Coriell. The samples from people with Northern and Western European ancestry had previously been prepared for the Centre d'Etude du Polymorphisme Humain (CEPH) and are part of the NIGMS Repository at Coriell.

Coriell also plays a major role in communicating with the various donor communities directly as well as in collaboration with NHGRI. Each of the communities where samples were collected for the HapMap has a Community Advisory Group, through which the Repository can communicate to the community the importance and results of research using the HapMap.

The International HapMap Project produced a resource with 3.9 million single nucleotide polymorphisms or SNPs (pronounced snips) typed in each of the samples. A SNP is a place in the genetic code where different people have different letters of the genetic alphabet. The patterns of SNPs provide important information about human variation that simplifies the process of finding genes that contribute to disease. The results can be downloaded from the HapMap website (http://www.hapmap.org/). The information from the HapMap has already led to the identification of genes for age-related macular degeneration and autism, and many new studies are currently underway.

The next effort is to expand the Repository to include samples from seven additional populations. Currently, samples from five additional populations have been collected and are available, including samples from the Denver (Colorado) Metropolitan Chinese Community; the Luhya from Webuye, Kenya; people of Mexican Origin in Los Angeles, California; people with African Ancestry in the Southwestern United States; and Tuscans in Italy. In addition, samples from two populations are being prepared, from Gujarati Indians (India) in Houston, Texas; and from the Maasai in Simba, Kenya. The samples from these populations will be examined across the genome and in some regions in detail. They will provide information on how generally applicable the HapMap data from the initial four populations are, as well as on the patterns of variation in these populations that will be useful for finding genes affecting disease.

In addition to assisting in the identification of genetic factors involved in disease, the HapMap can help pinpoint genetic variations that may affect the response of people to medications, toxic substances and environmental factors. Such information might be useful to help doctors prescribe the right drug in the right dose for each patient, as well as recommend prevention strategies that take into account individuals' varying responses to environmental factors, such as diet. The HapMap may also be used to find genetic factors that contribute to good health, such as those that protect against infectious diseases or promote longevity.

For more information on the HapMap Project, visit the following websites: www.genome.gov; www.hapmap.org; or www.coriell.org.