Robert J. Desnick, PhD, MD

Mount Sinai School of Medicine

Nominated by: Fabry Support & Information Group

Dr. Robert J. Desnick, PhD, MD, has been a geneticist and pediatrician for more than 30 years. His interest in genetic conditions like Fabry disease goes back to the early days of his medical career at the University of Minnesota. After moving to Mount Sinai School of Medicine in New York City, he has been able to correctly diagnose Fabry disease patients from across the US and around the world.

During the many years of his career, Dr. Desnick has published over 600 papers and chapters in a number of books. He has received many fellowships, numerous awards, participated on boards of association, foundations and councils some of which he founded or presided over and has been included in various prestigious medical societies.

In the 1970s, Dr. Desnick preformed some of the earliest attempts to treat Fabry disease with enzyme replacement. It wasn't until the 1980s that a practical means of large scale production of therapeutic enzyme became viable though recombinant DNA technology. Again, Dr. Desnick was there seeking out the means to treat patients. Through tenacious persistence, human clinical trials began in the late 1990s and in April of 2003 the Food and Drug Administration approved the first-ever Fabry treatment for US citizens.

As a result of this physician and researcher's dedication to finding a treatment for those suffering from this rare disease, Fabry patients finally have hope. What was once a sentence to a life of pain and early death is now seen as a chance for a real future. The debilitating symptoms of Fabry disease can now be mitigated and patients are receiving real benefit from a treatment that replaces a vital enzyme their body's lack.

The Fabry Support & Information Group proudly nominates Dr. Robert J. Desnick to the Rare Disease Hall of Fame. Without question his lifelong work to help those suffering from Fabry disease and other lysosomal storage disorders earns him this position.