As the Medical Director for the Department of Human Genetics I am involved in clinical applications of genetics, laboratory testing and genetics education. Clinical activities at the University of Chicago include general genetics clinics and specialty clinics including Marfan syndrome, cardiac genetics, neurogenetics and craniofacial) and hospital consultation services. I am actively involved in the clinical laboratories of molecular and cytogenetics and participate in sign out and administrative development of these labs. My research in the past has focused on genetic diseases, which reveal insight into normal copper metabolism in the cell. I am the director of the ABMGG laboratory-training program and courses in the Pritzker school of medicine.
I am interested in research projects through the clinical laboratories and collaborate with Human Genetics faculty to provide clinical correlation to the basic sciences work.
On a national level, I am on the Board of Directors for the American Board of Medical Genetics and Genomics and am co-chairman of the Maintenance of Certification Committee for the ABMGG. I am also the president of the Association of Professors of Human and Medical Genetics.
M.D. Washington University School of Medicine 1992
ACMG board-certified Clinical Geneticist