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Genetics Pioneer Rochelle Hirschhorn, MD, Honored with American Society of Human Genetics 2013 Victor McKusick Leadership Award

The American Society of Human Genetics (ASHG) named Rochelle Hirschhorn, MD, research professor and professor emerita of medicine, cell biology, and pediatrics at NYU Langone Medical Center, and her husband, Kurt Hirschhorn, MD, the recipients of the 2013 Victor A. McKusick Leadership Award. The award recognizes individuals whose professional achievements have fostered and enriched the development of human genetics.

ASHG presented the award to the Hirschhorns, who are members of the Institute of Medicine of the National Academy of Sciences and founding members of the American College of Medical Genetics, on October 26, at the organization’s 63rd annual meeting in Boston. The McKusick Award honors the combined contributions of the Hirschhorns, who have been members of ASHG for over 40 years and have served in many ASHG leadership positions, including president and members of the Board of Directors and Editorial Board.

The Hirschhorns have a longstanding relationship with NYU Langone: both are alumni of NYU School of Medicine and Dr. Rochelle Hirschhorn completed her internship in internal medicine at Bellevue Hospital and a rheumatology fellowship at NYU Langone. A faculty member for 50 years, she served as the chief of the Division of Medical Genetics at NYU Langone for 24 years.

“Rochelle’s passion for exploration not only advanced the field of genomics, but has also paved the way for women in science,” said Dafna Bar-Sagi, PhD, senior vice president and vice dean for science, chief scientific officer, and professor in the Department of Biochemistry and Molecular Pharmacology. “We congratulate the Hirschhorns for receiving this award in recognition of their important life work.

An immunologist and geneticist by training, Dr. Rochelle Hirschhorn became a pioneer in the field of genetics, conducting seminal work on enzyme deficiencies and gene mutation, laying the groundwork for enzyme replacement, and subsequently, gene therapy. Her work has included cellular immunology, leukocyte biology, inherited immunodeficiency, and lysosomal storage diseases.

Her discoveries include delineating the genetic structure and pathophysiology of adenosine deaminase (ADA) deficiency, a form of severe combined immunodeficiency. She also described the phenomenon of reverse mutations as a cause of “self-cure” in ADA deficient patients and predicted the utility of gene therapy for ADA deficiency. The answers she unearthed for conditions like ADA deficiency have been found to apply to a broad spectrum of genetic diseases. She clarified the genetic structure of the gene for the lysosomal enzyme acid alpha glucosidase, which is mutated in Pompes disease, a lysosomal form of glycogen storage muscle disease. She identified and characterized numerous mutations of varying severity, including the mutation commonly responsible for the adult onset form of Pompe disease.

Dr. Rochelle Hirschhorn served as the longstanding NYU School of Medicine counselor for the Alpha Omega Alpha honor society, and in 2010, was honored with the NYU Langone Medical Center Master Scientist Award. She also received the Distinguished Alumna Award from Barnard College, as well as the Solomon A. Berson Medical Alumni Achievement Award from NYU. In 1986, she was the first woman elected to the Interurban Clinical Club, founded in 1905, and soon was elected president of the group.

Dr. Kurt Hirschhorn is a professorial lecturer of pediatrics and human genetics, professorial lecturer of genetics and genomics sciences, and professorial lecturer of medicine at the Icahn School of Medicine at Mount Sinai. His major scientific achievements include discovery, characterization, and application of the mixed-lymphocyte reaction and the early and sustained use of cytogenetics to discover and describe multiple human chromosomal disorders including the Wolf-Hirschhorn syndrome, also called the 4p- syndrome.

Dr. Kurt Hirschhorn is the recipient of multiple awards in genetics and pediatrics, including ASHG’s Allan Award and Excellence in Education Award, the March of Dimes’ Colonel Sanders Lifetime Achievement Award, and the Howland Award in Pediatrics. At Mount Sinai School of Medicine, he was the chief of one of the first Divisions of Genetics for eight years and chair of Pediatrics for 18 years. In addition to serving as a mentor to numerous trainees and faculty, he helped establish the first masters level genetic counseling program at Sarah Lawrence College.

The husband and wife team have been married for over 60 years and have co-authored over 20 papers or chapters, in addition to several hundred papers written individually. 

“The enduring leadership and vision provided by the Drs. Hirschhorn have helped human genetics to flourish and assimilate into the broader context of science, medicine, and health,” said Joseph D. McInerney, executive vice president of ASHG. “They also have helped to improve awareness and understanding of human genetics among policymakers and the general public.”

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