![\"Dr.](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2017\/07\/Dr.-Robert-Desnick.png\")
<\/a><\/p>\nRobert J. Desnick, M.D., Ph.D.<\/b><\/p>\n
\u201cIt\u2019s very satisfying when your research efforts lead to new diagnostics or treatment for patients suffering from rare diseases.\u201d 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.\u00a0<\/span><\/p>\nDr. Desnick has cared for and counseled patients suffering from genetic conditions for more than 40 years.\u00a0 His research efforts have focused on the development of therapies for Fabry disease, Niemann-Pick B disease, and the Acute Porphyrias.\u00a0 He has also made an impact by paving the way to prevent certain recessive, neurodegenerative genetic conditions through prenatal and premarital carrier screening.\u00a0 Because of Dr. Desnick\u2019s work, Mount Sinai now offers next generation sequencing for nearly 300 debilitating neurological diseases of children.\u00a0 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.<\/span><\/p>\nAlthough he had an early interest in science, Dr. Desnick did not set out for a career in genetics or medicine.\u00a0 His introduction to medical genetics began as an undergraduate student majoring in humanities at the University of Minnesota.\u00a0 He became interested in the subject after taking an introductory course in human genetics taught by Dr. Sheldon Reed, who coined the term \u201cgenetic counseling\u201d and who first developed the field.\u00a0 This launched a career spanning four decades at the forefront of medical research.<\/span><\/p>\n\u201cI have seen a lot of patients and I have seen a lot of suffering, and it\u2019s very difficult,\u201d says Dr. Desnick.\u00a0 \u201cWhen your research leads to a new treatment, it can provide treatment for all the patients with the disease. \u00a0It is a most rewarding experience, and only encourages you to continue efforts to treat and cure rare diseases \u2013 that has been a major focus of my career.\u201d<\/span><\/p>\nDr. Desnick continues by saying, \u201cI think the time for developing new treatments, cures, and prevention strategies has never been better.\u201d 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.<\/span><\/p>\nNORD is honored to present Dr. Robert Desnick with a 2017 Rare Impact Award.<\/span><\/p>\n <\/p>\n
<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"2017 Honoree Rare Impact Award Robert J. Desnick, M.D., Ph.D. \u201cIt\u2019s very satisfying when your research efforts lead to new diagnostics or treatment for patients suffering from rare diseases.\u201d This … <\/p>\n
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