Philadelphia, PA As the "working draft" of the human genome is officially published today, scientists are unveiling powerful tools to make the crucial data more useful to medical researchers. One team, the BAC Resource Consortium, led by a researcher at The Childrens Hospital of Philadelphia, announced today that it has used large segments of DNA to connect the genomes sequence data to cytogenetic landmarks the microscopic patterns of light and dark bands seen on human chromosomes.
With the help of this new resource, researchers studying a disease associated with detectable defects on a chromosome can identify the precise DNA segment involved, then order normal copies of the segment for further analysis in their own laboratories. This resource will enable researchers to identify the genes that are defective in genetic diseases, including cancer.
"Our project helps to make human genome data usable by guiding scientists to specific DNA segments needed for their research," says Vivian G. Cheung, M.D., a researcher in the Division of Neurology at The Childrens Hospital of Philadelphia and an assistant professor of Pediatrics at the University of Pennsylvania School of Medicine. Dr. Cheung is the lead author of a paper about the BAC Resource Consortium in the Feb. 15 special issue of the journal Nature, which contains the official publication of the draft of the human genome, along with many related papers. Other major collaborating institutions in the federally funded consortium include the Roswell Park Cancer Institute (represented by Dr. Norma Nowak) and the Fred Hutchinson Cancer Research Center (represented by Dr. Barbara J. Trask).
The completion of the working draft of the human genome was announced in June 2000 at a White House ceremony, well in advance of this weeks formal publication of the data in Nature by the International Human Genome Sequencing Consortium. Heralded as the compilation of the "Book of Life," the working dr
Contact: Cynthia Atwood
Children's Hospital of Philadelphia