Pioneering Innovation: The Role of M.D. Trainees and Young Faculty in Developing Novel Therapies for Neurofibromatosis Type 1 Over 30 Years

D. W. Clapp, MD

Chair, Department of Pediatrics

Distinguished Professor

Richard L. Schreiner Professor of Pediatrics

Professor of Microbiology & Immunology

Professor of Biochemistry & Molecular Biology

Professor of Medical & Molecular Genetics

Learning objectives:

•         Identify common phenotypic manifestations of neurofibromatosis type 1

•         Understand the basic biochemical function of the NF1 tumor suppressor gene and it’s interaction with Ras.

•         Understand the role of haploinsufficiency in tumor suppressor genes

•         Delineate a strategy for the use of genetically engineered mouse models and broad research groups in the treatment orphan diseases.

•         Understand the ongoing professional development of physician-scientist trainees and their significant impact in discovery.