Dr. Desnick accepting the Rare Impact Award at the National Organization of Rare Disorders, Rare Impact Awards gala in Washington D.C. Thursday, May 18, 2017.
The National Organization for Rare Disorders (NORD), a nonprofit organization that supports 30 million Americans with rare diseases, recently awarded a 2017 Rare Impact Award to Robert Desnick, MD, PhD, Dean for Genetics and Genomic Medicine at the Icahn School of Medicine at Mount Sinai.
NORD cited Dr. Desnick’s longstanding dedication to developing life-changing treatments for people with lysosomal storage diseases and porphyrias. (Lysosomal storage diseases are characterized by an abnormal buildup of toxic materials in the body’s cells, whereas porphyrias are a group of disorders caused by deficiencies of enzymes involved in the production of heme—a key component of important proteins in the body.)
In nominating Dr. Desnick, NORD stated that he “is among the few physician-scientists whose outstanding and innovative basic, translational, and clinical research accomplishments have led to effective treatments and prevention of rare genetic diseases.” Over the course of his more than 40-year career, Dr. Desnick—who is also Professor and Chair Emeritus of the Icahn School of Medicine’s Department of Genetics and Genomic Sciences—has developed therapies for Fabry disease and Niemann–Pick disease, and co-founded the biotech company Amicus Therapeutics, Inc.
His work in genetics has also led to the development of routine screening tests for more than 280 panethnic pediatric diseases. An elected Fellow of the American Association for the Advancement of Science and a Member of the National Academy of Sciences, Engineering, and Medicine, Dr. Desnick has published more than 500 peer-reviewed articles and 235 chapters and reviews. In accepting his award at NORD’s Rare Impact Awards event in Washington, D.C., in May, Dr. Desnick expressed his support for patient advocacy and the need for government-sponsored research funding. “Most of all,” he said, “we need to encourage young researchers to ride the wave of innovation.”