The genetic error on chromosome 4 responsible for a rare birth defect known as Wolf-Hirschhorn syndrome.

Institution:

New York University School of Medicine

Researchers:

Kurt Hirschhorn, MD, NYU School of Medicine graduate & professor, later professor of pediatrics at Icahn School of Medicine at Mount Sinai

Impact:

Wolf-Hirschhorn syndrome is a birth defect characterized by severe growth retardation, mental deficiency, facial and heart defects, and other malformations.

Timeline:

Dr. Hirschhorn joined the faculty of the NYU School of Medicine in 1958, starting a genetics clinic and a course in genetics for medical students. Dr. Hirschhorn received the 2006 March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences.