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Richard Kolodner, Ph.D.
Professor of Medicine
Pathways/processes: DNA mismatch repair
The research performed in the Kolodner lab is focused on three areas of genetics. First, they use the yeast Saccharomyces cerevisiae to study the genetics of DNA mismatch repair and to identify the genes and pathways that prevent genome instability. Second, they are actively studying the human genetics of defects in mismatch repair genes and genes that prevent genome instability. And third, they initiated several successful collaborative positional cloning projects that have resulted in the identification of the genetic basis of two human diseases, Cold Induced Autoinflammatory Syndrome due to inherited mutations in the NALP3 gene and Congenital Tufting Enteropathy due to inherited mutants in the gene encoding EpCAM. The lab has identified a number of human mismatch repair genes and demonstrated that inherited mutations in two of these genes cause hereditary non-polyposis colon cancer, now called Lynch Syndrome, a common inhertited human cancer susceptibility syndrome. They also demonstrated the genetic and epigenetic basis of mismatch repair defects in sporadic cancers. This work resulted in the development of now widely used diagnostic tests used in cancer treatment and diagnosis. More recently they have developed evidence that human genes that are homologs of the S. cerevisiae genome instability genes are also mutated in cancer and are candidate tumor suppressor genes.