Mar. 15, 2017
Posted by Amanda DeBellis
Rare Impact Award
Robert J. Desnick, M.D., Ph.D.
“It’s very satisfying when your research efforts lead to new diagnostics or treatment for patients suffering from rare diseases.” This is the experience of Dr. Robert J. Desnick, whose pioneering work as a researcher and clinician has improved patient care and prevented thousands of cases of rare, genetic diseases.
Dr. Desnick has cared for and counseled patients suffering from genetic conditions for more than 40 years. His research efforts have focused on the development of therapies for Fabry disease, Niemann-Pick B disease, and the Acute Porphyrias. He has also made an impact by paving the way to prevent certain recessive, neurodegenerative genetic conditions through prenatal and premarital carrier screening. Because of Dr. Desnick’s work, Mount Sinai now offers next generation sequencing for nearly 300 debilitating neurological diseases of children. The screening tests are offered routinely by the Genetic and Obstetrical physicians at the Icahn School of Medicine at Mount Sinai, where he serves as Dean for Genetics and Genomic Medicine.
Although he had an early interest in science, Dr. Desnick did not set out for a career in genetics or medicine. His introduction to medical genetics began as an undergraduate student majoring in humanities at the University of Minnesota. He became interested in the subject after taking an introductory course in human genetics taught by Dr. Sheldon Reed, who coined the term “genetic counseling” and who first developed the field. This launched a career spanning four decades at the forefront of medical research.
“I have seen a lot of patients and I have seen a lot of suffering, and it’s very difficult,” says Dr. Desnick. “When your research leads to a new treatment, it can provide treatment for all the patients with the disease. It is a most rewarding experience, and only encourages you to continue efforts to treat and cure rare diseases – that has been a major focus of my career.”
Dr. Desnick continues by saying, “I think the time for developing new treatments, cures, and prevention strategies has never been better.” To facilitate this effort, he also has focused on training the next generation of medical geneticists and research experts so future patients will have expert medical care.
NORD is honored to present Dr. Robert Desnick with a 2017 Rare Impact Award.