Robert J. Desnick, Ph.D., M.D.

Robert J. Desnick, PhD, MD

Dr. Robert Desnick has served on the APF Scientific Advisory Board since its inception in 1982.  He is also Professor and Chairman of the Department of Genetics and Genomic Sciences and the Associate Dean for Genomic-Based Research at the Mount Sinai School of Medicine in New York City.  Dr. Desnick attended college and medical school at the University of Minnesota in Minneapolis, where he also earned his Ph.D. in genetics, and did his medical residency.  In addition to his Porphyria research, Dr. Desnick runs the only comprehensive DNA testing laboratory for the porphyrias in the Western Hemisphere.

Dr. Desnick’s Porphyria research is focused on the molecular genetics of these diseases.  His laboratory was one of the first to purify several heme biosynthetic enzymes, and to isolate their genes.  They have identified the gene defects in several of the porphyrias and are currently working with mouse models of Acute Intermittent Porphyria (AIP) and Congenital Erythropoietic Porphyria (CEP) to characterize their pathogenesis and to investigate various therapeutic approaches, including cell and gene therapies.