Research

Division faculty are involved in many basic and clinical research projects within the field of medical genetics. Projects are summarized below. For details, visit the Current Research section of each individual's faculty biography.

  • Dr. Ophir Klein's research is focused on two areas: 1) understanding the processes underlying craniofacial and dental malformations, using mouse models to study the mechanisms responsible for the normal and abnormal development of teeth, facial skeleton and other organs, as well as the regeneration of these organs, 2) studying the function of Sprouty genes, which are antagonists of receptor-kinase signaling. Dr. Klein and his colleagues are working to understand the roles of these genes in embryonic development, adult homeostasis, embryonic stem cells, and cancer.
  • Dr. Seymour Packman's current investigations focus on the natural history and disease mechanisms of lysosomal storage disorders, particularly neurologic manifestations in Fabry disease. His laboratory is also involved in identification of modifier genes in galactosemia.
  • Dr. Joseph Shieh's research program seeks to understand how genetic and epigenetic alterations in the human genome influence health. Using large-scale genomic studies and novel molecular analyses, the Shieh laboratory strives to develop strategies to predict disease and response to therapies.
  • Dr. Anne Slavotinek's research is focused on the molecular genetic etiology of two multiple congenital anomaly syndromes: anophthalmia (absent eyes) and microphthalmia (small eyes).