The National Institute of General Medical Sciences (NIGMS) has awarded a $14.6 million, 5-year contract to the Coriell Institute for Medical Research in Camden, NJ, to continue operation of the NIGMS Human Genetic Cell Repository (HGCR). The repository is now in its 32nd year as an NIGMS-funded research resource.

The HGCR provides cells and DNA for use in human genetic and genomic research, speeding the discovery and investigation of genes linked to disease. Using the repository collection, scientists can study both common and rare disorders without having to locate appropriate cell donors. Since its establishment in 1972, the HGCR has distributed more than 100,000 cell cultures and 282,000 DNA samples.

"High-quality, publicly available research resources are a critical piece of the 21st-century scientific toolkit," said Jeremy M. Berg, Ph.D., NIGMS director. "The NIGMS Human Genetic Cell Repository continues to provide researchers with essential materials for studying the role genetic variation plays in human disease."

Genetic factors appear to contribute to virtually every human disease. But in most cases it is combinations of genes and environmental influences that cause illness, and researchers do not yet understand most of the combinations of factors. The HGCR plays an important role in advancing this knowledge by establishing specialized collections of DNA and cell cultures and making them available to the research community for a modest fee.

Within the repository are thousands of cell lines from people with genetic abnormalities as well as from unaffected family members. For the many genetic disorders represented, a large number of the cell lines have been characterized at the molecular level. This fine level of detail helps researchers understand how slight genetic differences can lead to very different forms and severities of a disease. The HGCR also houses extensive panels of cell lines and DNA representing nearly all the variations of certain disease genes such as the BRCA1 breast and ovarian cancer gene and the cystic fibrosis gene. Researchers have successfully used HGCR cell lines harboring defects in individual chromosomes to pinpoint the locations of disease genes within the human genome and to search for new genes, enabling further studies of many health conditions.

While humans share 99.9 percent of their DNA sequence, within the 0.1 percent that is different lies important information about disease risks and individual responses to medications. To help researchers find this information, the HGCR contains samples from the HapMap consortium, a global partnership of scientists and funding agencies whose goal is to catalog genetic variation among all humans, as well as from the Centre d'Etude du Polymorphisme Humain (CEPH) family resource. This latter collection contains DNA samples and cell lines from a well-characterized group of families including grandparents, parents, and children. Scientists use the popular CEPH collection to clarify the roles of genes in health and disease.

Because genetic studies can raise concerns about donor privacy, samples deposited in the repository are stripped of individual identifying information and they may not be used for commercial purposes. To address the possible implications of genetic studies for the larger populations to which individual donors belong, the HGCR requires that researchers consult in advance with the communities from which they propose to collect samples and make plans for ongoing consultation with those communities.

"In addition to maintaining a very high level of scientific quality, the NIGMS Human Genetic Cell Repository has stayed well ahead of the curve on the important issue of protecting the privacy of individuals and the interests of communities," said Judith H. Greenberg, Ph.D., director of the NIGMS Division of Genetics and Developmental Biology and project officer on the repository contract. "Individuals, communities and scientists are partners in the research process, and policies like those established by the repository help advance genetic research while maintaining high ethical standards."

The repository Web site, http://locus.umdnj.edu/nigms, lists available cell lines and DNA collections, along with detailed background information on their characteristics.

NIGMS is one of the 27 components of NIH, the premier federal agency for biomedical research. The NIGMS mission is to support basic biomedical research that lays the foundation for advances in disease diagnosis, treatment and prevention. More information about the HGCR can be found at http://www.nigms.nih.gov/about_nigms/repository.html.