Aubrey Milunsky

Dr. Aubrey Milunsky is the founder of the non-profit Center for Human Genetics, now celebrating the 43rd anniversary year. He is now Co-Director with his son. He was Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, and Pathology at Boston University School of Medicine. Boston University named the Aubrey Milunsky Chair in Human Genetics in 2015. He was honored by inclusion in the 2022 book A Century of Achievement that selected the biographies and accomplishments of 101 physician scientists from South Africa, including 5 Nobel Prizewinners, who made significant contributions to Global Medicine over 100 years (1890-1990).

He was born and educated in Johannesburg, South Africa and is triple board-certified in Pediatrics, Genetics, and Internal Medicine. He served as a medical geneticist at Harvard Medical School and the Massachusetts General Hospital for 13 years before his professorial appointments at Boston University School of Medicine. The Center’s laboratories are a major International Referral Center for molecular diagnostics and for prenatal genetic diagnosis, now located in Cambridge, Massachusetts.

He is the author and/or editor of 27 books, including all 8 editions of the world’s major reference work, Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment (2021), (1400pages), now co-edited with his son, Jeff, who was Professor of Pediatrics and Genetics and Genomics at Boston University School of Medicine. This book received the “Highly Commended” Award Certificate in 2010 from the British Medical Association. He has published six books for the lay public, the last two being Your Genes, Your Health: A Critical Family Guide That Could Save Your Life, and I Didn’t Know, I Didn’t Know : Avoidable Deaths and Harm due to Medical Negligence. An earlier book (Know Your Genes) appeared in nine languages. His is the author or co-author of over 460 scientific communications.

He has given hundreds of invited lectures in 35 countries and the Vatican. In 1982, he was honored by election as a Fellow of the Royal College of Physicians of England. In that year, his alma mater, the University of the Witwatersrand School of Medicine, conferred the D.Sc. degree for his work on the prenatal detection of genetic disorders. He is an elected member of the Society for Pediatric Research and the American Pediatric Society and a Founding Fellow of the American College of Medical Genetics. He has served on the Editorial Board of PRENATAL DIAGNOSIS for over 3 decades.

He originated and directs an annual conference on Obstetrics, Gynecology, Perinatal Medicine, Neonatology and the Law, dedicated to advances in medicine, standards of care, and the avoidance of errors and medical negligence. January 2025 was the 40th YEAR of this successful continuing medical & legal education conference.

He has led the teams that first located the gene for X-linked Lymphoproliferative disease, first cloned the PAX3 gene for Waardenburg syndrome, first demonstrated the 70% avoidance rate for spina bifida afforded by folic acid supplementation, first determined newly recognized genes for Chronic Intestinal Pseudo-Obstruction and first recognized the increased prevalence of

narcolepsy in the Ehlers-Danlos syndrome. He and his team have made the first prenatal diagnosis of various genetic disorders, including tuberous sclerosis.