HomeResearchIntramural ResearchResearch Branches at NHGRIGenome Technology Branch Collins Lab

Francis S. Collins, M.D., Ph.D. Director National Human Genome Research Institute Senior Investigator Genome Technology Branch B.S. University of Virginia, 1970 Ph.D. Yale University, 1974 M.D. University of North Carolina, Chapel Hill, 1977 (301) 496-0844 (301) 402-2218 fc23a@nih.gov Building 31, Room 4B09 31 Center Drive, MSC 2152 Bethesda, MD 20892-2152 Selected Publications Books by NHGRI Researchers Postdoctoral Training Position

Our laboratory focuses on the identification and understanding of genes involved in human disease, using positional cloning techniques along with data and tools provided by the Human Genome Project.

Our prior research led to the identification of the genes for cystic fibrosis, neurofibromatosis and Huntington's disease. More recently, we identified the genes for the M4 type of adult acute leukemia, Alagille syndrome and multiple endocrine neoplasia type I (MEN1). We are now investigating the normal and abnormal function of the MEN1 gene, using a mouse knockout model and other biochemical approaches.

In April 2003, we led a team that identified the gene responsible for Hutchinson-Gilford progeria syndrome (HGPS), which is the most dramatic form of premature aging. We found that a point mutation in the lamin A (LMNA) gene produced an abnormal lamin A protein that leads to instability of the nuclear membrane in cells of progeria patients. We are now engaged in efforts to identify possible therapies to prevent or reduce these nuclear membrane irregularities, and are also working with collaborators to explore the possible role of the LMNA gene in the normal aging process.

On a different front, a major project in our lab focuses on extending the positional cloning approach to more difficult, non-Mendelian problems. We are pursuing the genetic basis of Type II diabetes mellitus by studying a large cohort of affected sib pairs and relatives collected in Finland. We are searching for genes conferring susceptibility to diabetes, or to intermediate traits such as insulin resistance, in more than 5,000 individuals. Using a genome scan followed by fine mapping, we have identified regions of chromosomes 6, 11, 14, 20, 22 and X that apparently harbor diabetes susceptibility genes. We are now applying high throughput genotyping of single nucleotide polymorphisms (SNPs), using mass spectrometric technology, to search for the precise variants responsible.

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Last Reviewed: June 2004