Research will include indentifying and understanding the molecular basis of human genetic disease and planning and carrying out clinical trials to test methods for the treatment and perhaps the cure of such diseases. Researchers in the division will collect and study families in which important diseases are inherited--a facet that will provide the nucleus for a physician training program in medical genetics--and translate basic science advances into effective, reliable, and cost-effective DNA- and cytogenetic-based diagnostics.
The division will collaborate with other human genetics research efforts at NIH, complementing ongoing activities in human molecular genetics, structural biology, and gene therapy. It provides a core of support facilities as a resource for the NIH community.
These labs have expertise in genotyping and analyzing large families as a basis for genetic mapping, produce radiation reduced hybrid cell lines, perform chromosome microdissection, and support a physical mapping core to serve as a repository and distribution center for clones.
Since many common diseases appear to result from the interaction of more than one gene, as well as environmental factors, the intramural division will develop technologies to address the difficulties associated with analyzing multilocus diseases. As genetics increasingly becomes a part of everyday medicine, the division will play a major role in developing and participating in public education programs.