I have been interested in muscle and heart disease since I was a graduate student at Albert Einstein College of Medicine in the laboratory of Dr. Leslie Leinwand. As a graduate student, I studied the genes encoding the major muscle protein, myosin. Much of the work involved cloning and characterizing human myosin genes, but I also developed a system in which to study protein interactions in the subunits of myosin. I really enjoyed being a student in Leslie's lab. I spent a good bit of my graduate school years collaborating with the laboratory of Dr. James Spudich at Stanford University Medical Center where I became interested in studying motor proteins using in vitro motility assays. While at Einstein, I completed my M.D. and Ph.D. degrees as part of the Medical Scientist Training Program. I also had the opportunity to spend time at Marine Biological Laboratories as a teaching assistant in the Physiology Course. Although the Bronx is a really lovely place (with great Italian food), I admit that doing science on Cape Cod for several summers was a real pleasure.

My clinical training in Internal Medicine was at Brigham and Women's Hospital in Boston, MA at Harvard Medical School. I remained at the Brigham for my Cardiology Fellowship, and then began my post-doctoral research in Dr. Louis Kunkel's laboratory at Children's Hospital in the Division of Genetics and the Howard Hughes Medical Institute. While in Lou's lab, I gained training in human genetics, disease gene mapping and mutation analysis. During that time, we studied the genes encoding dystrophin-associated proteins and found these genes to be mutated in patients with autosomally-inherited forms of muscular dystrophy.

In 1996, I came to the University of Chicago. I direct the Cardiovascular Genetics clinic here at the University of Chicago where we provide clinical and research information to patients and families with inherited forms of heart disease. I also help patients with neuromuscular disease who have accompanying cardiac disease. In my laboratory, we are interested in identifying new disease genes in humans and also determining the mechanism by which mutations cause disease. It is an exciting time to be a scientist since the development of new technology and the human genome project provide new information and the means to study the genetic mechanisms of human disease.