MD, University of Illinois College of Medicine, 1983
Our research focuses on the clinical and molecular delineation of human malformation syndromes. Our goals are to improve the medical care of patients affected by these disorders; to provide generalized knowledge about the broad field of birth defects; and to understand basic mechanisms of normal and abnormal human development. Currently, we are working on two classes of disorders: classic multiple congenital anomaly syndromes and progressive overgrowth disorders. The multiple congenital anomaly syndromes include Pallister-Hall syndrome; Greig cephalopolysyndactyly syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome; and the Lenz microphthalmia syndrome. These disorders exhibit varying combinations of central nervous system malformations, visceral malformations, and polydactyly. Some have functional complications, such as mental retardation, seizures, and visual loss. We seek to describe the range of severity and long-term prognosis of these disorders through phenotypic characterization and natural history studies. Several of these disorders occur frequently in closed, Anabaptist sects, specifically the Old Order Amish and Mennonites of Lancaster County, Pennsylvania, and other regions of Ohio and Kentucky. We conduct field studies of these populations to evaluate and ascertain patients, perform computerized genealogical analysis, and develop clinical testing and treatment approaches. In the laboratory, we perform classical positional cloning studies to find the genes that cause these syndromes, determine genotype-phenotype correlations, and use animal models to investigate the pathogenetic mechanisms of these disorders.
Honors and Awards
1979 Phi Beta Kappa, University of California, Riverside 1979 Most outstanding graduate of the College of Natural and Agricultural Sciences, University of California, Riverside 1983 Alpha Omega Alpha, University of Illinois College of Medicine 1986 Best teacher award by medical school class of 1986, University of Wisconsin Hospitals and Clinics 1992 Outstanding young investigator University of Michigan Department of Pediatrics 1999 NHGRI Mentorship Award 2002 NIH Directors Award for developing the DNA testing brochure for World Trade Center victim families