Research Interests

Dr. Collins' research laboratory is focused in the identification and understanding of genes that cause human disease. After successfully identifying the genes for cystic fibrosis, neurofibromatosis, Huntington's disease, and the M4 subtype of adult leukemia, the lab turned to the genetic analysis of more difficult non-Mendelian problems. A major effort is underway to pursue the genetic basis of non-insulin dependent diabetes mellitus. Another project is the pursuit of genes conferring inherited susceptibility to prostate cancer. Many of the genes conferring risks for disease are large, and a wide variety of mutations are capable of conferring phenotypic consequences. For successful introduction of genetic analysis into clinical medicine, the technology for mutation detection must be capable of detecting all possible mutations in very large targets, at high sensitivity and specificity, and at affordable cost. We are collaboratively developing methods to use DNA chips for detection of heterozygous mutations in the BRCA1 gene, a good example of a large gene with almost limitless mutational possibilities. We are also studying the genetic basis of a classical dominant familial cancer syndrome.

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Primary Section

Section 41: Medical Genetics, Hematology, and Oncology

Secondary Section

Section 26: Genetics