Jeff Milunsky, MD

Co-Director, Center for Human Genetics, Inc.
Director, Clinical Genetics
Senior Director, Molecular Genetics

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 two fellowships, Clinical Genetics and Clinical Molecular Genetics, at Boston University. He is board certified in Clinical Genetics and Clinical Molecular Genetics.  He was also previously board certified in Pediatrics (1995-2012) and is now focused solely on genetics.

Dr. Milunsky joined Boston University School of Medicine in 1995 and was made Professor of Pediatrics and Genetics and Genomics in 2008. He has served as Medical Director of the Masters Degree program in Genetic Counseling at Boston University School of Medicine from 2005-2012.

Dr. Milunsky is the Co-Director of the Center for Human Genetics, Inc., the Director of Clinical Genetics, and Senior Director of Molecular Genetics. He discovered the gene that causes the Branchio-Oculo-Facial syndrome and found that mutations in the gene FGF10 can cause Lacrimo-Auriculo-Dental-Digital syndrome. He has received NIH funding for his studies on Waardenburg and Kabuki syndromes. He is the co-editor of the 6th-8th edition of the major reference text Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment.

His research interests include the genetic etiology of syndromic and non-syndromic hearing loss, as well as intellectual disability/multiple congenital anomaly syndromes. He 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/autism and those with connective tissue disorders such as Ehlers-Danlos syndrome. He has been voted by his peers as one of the Top Doctors in Genetics in Boston in 2011 and 2014-2022.