Division of Genetic Medicine

The aim of my research is to further understand and characterize the genetic components of developmental programs used to build human limbs and hearts. Our limb project is focused on identifying and cloning genes causing birth defects of the limbs. Some of the disorders we are working on are: Ulnar-Mammary Sydrome, Freeman-Sheldon Syndrome, Ectrodactyly-Ectodermal Dysplasia Syndrome, Tarsal Carpal Coalition, Trismus Pseudocamptodactyly, ectrodactyly-tibial hemimelia, and Holt-Oram Syndrome. Our heart project is focused on identifying developmental programs that cause cardiovascular malformation by analyzing families in which left-sided lesions, conotruncal anomalies, and/or disturbances of left-right asymmetry are segregating. These approaches complement our work on the origin and affinities of anatomically modern humans. Eventually, these studies should provide us with a more comprehensive portrait of the evolution and development of anatomically modern humans.