New Contract Allows NIGMS Cell Repository to Continue Providing Key Genetic Research Resources
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
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
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.