AUBREY MILUNSKY, MD, DSC FRCP, FACMG, DCH

Dr. Aubrey Milunsky is the founder of the non-profit Center for Human Genetics, now celebrating its 44th anniversary year. He currently serves as Co-Director together with his son. He was Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, and Pathology at Boston University School of Medicine.

Boston University honored him in 2015 by naming the Aubrey Milunsky Chair in Human Genetics. He was also recognized in the 2022 publication A Century of Achievement, which highlighted 101 physician scientists from South Africa who made significant contributions to global medicine over 100 years.

Born and educated in Johannesburg, South Africa, Dr. Milunsky is triple board-certified in Pediatrics, Genetics, and Internal Medicine. Before joining Boston University, he served for 13 years as a Medical Geneticist at Harvard Medical School and Massachusetts General Hospital.

The Center for Human Genetics laboratories have become a major international referral center for molecular diagnostics and prenatal genetic diagnosis and were recognized by Business Rate as “The Best Medical Laboratory in Cambridge, Massachusetts in 2026.”

He is the author and/or editor of 27 books, including all 8 editions of the world-renowned reference work:
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.
The publication received the “Highly Commended” Award Certificate in 2010 from the British Medical Association.

Dr. Milunsky has also written six books for the general public, including:
Your Genes, Your Health and
I Didn’t Know, I Didn’t Know.
One of his earlier books, Know Your Genes, appeared in nine languages.

He is the author or co-author of more than 460 scientific communications and has delivered invited lectures in 35 countries and at the Vatican.

In 1982, he was elected Fellow of the Royal College of Physicians of England. That same year, the University of the Witwatersrand School of Medicine awarded him the D.Sc. degree for his work in prenatal detection of genetic disorders.

He is an elected member of the Society for Pediatric Research, the American Pediatric Society, and a founding Fellow of the American College of Medical Genetics. He has also served on the editorial board of Prenatal Diagnosis for over three decades.

Dr. Milunsky directs an annual conference on Obstetrics, Gynecology, Perinatal Medicine, Neonatology, and the Law focused on advances in medicine, standards of care, and the avoidance of medical negligence. January 2026 marked the 41st year of this internationally respected conference.

He has led pioneering research 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 through folic acid supplementation
• First identified genes for chronic intestinal pseudo-obstruction
• First recognized increased prevalence of narcolepsy in Ehlers-Danlos syndrome
• Performed the first prenatal diagnosis of various genetic disorders, including tuberous sclerosis

JEFF MILUNSKY, M.D., F.A.C.M.G.

Dr. Jeff Milunsky received his M.D. degree, magna cum laude, from Boston University School of Medicine in 1992.

He completed his residency in Pediatrics at New England Medical Center and completed fellowships in Clinical Genetics and Clinical Molecular Genetics at Boston University.

He is board certified in Clinical Genetics and Clinical Molecular Genetics and was previously board certified in Pediatrics from 1995–2012 before focusing entirely on Genetics.

Dr. Milunsky joined Boston University School of Medicine in 1995 and became Professor of Pediatrics and Genetics and Genomics in 2008.

From 2005–2012, he served as Medical Director of the Master’s Degree Program in Genetic Counseling at Boston University School of Medicine.

He currently serves as Co-Director of the Center for Human Genetics, Director of Clinical Genetics, and Senior Director of Molecular Genetics.

Dr. Milunsky discovered the gene responsible for Branchio-Oculo-Facial Syndrome and found that mutations in the FGF10 gene can cause Lacrimo-Auriculo-Dental-Digital Syndrome.

He has received NIH funding for his studies involving Waardenburg and Kabuki syndromes.

He is also co-editor of the 6th–8th editions of the major medical reference text:
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.

His research interests include:

• Genetic causes of syndromic and non-syndromic hearing loss
• Intellectual disability syndromes
• Multiple congenital anomaly syndromes

Dr. Milunsky is an elected member of the Society for Pediatric Research and Fellow of the American College of Medical Genetics.

His clinical expertise includes evaluation of individuals with:

• Developmental disorders and Autism
• Connective tissue disorders such as Ehlers-Danlos Syndrome

He has repeatedly been voted by his peers as one of the Top Doctors in Genetics in Boston from 2011 and 2014–2026.