BUSM professor authors book on how knowledge about genes and family history can save lives

The National Institutes of Health Office of Rare Diseases reports that there are approximately 7,000 rare genetic disorders that affect about 1 out of every 12 people. In this non-technical comprehensive guide, Milunsky, who is Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology and Pathology at Boston University School of Medicine (BUSM), provides valuable information about many genetic disorders, including cancer, heart disease, autism, mental illness, intellectual disability, birth defects, neurologic disorders, diabetes, obesity and many more. He describes the various options available via genetic counseling for couples at risk of having a child with a genetic disorder, including carrier detection tests, prenatal diagnosis and preimplantation genetic diagnosis.

Milunsky underscores the importance of recognizing seemingly unrelated disorders in a family due to the same genetic mutation to illustrate the vital importance of understanding one's family history and ethnic origin. He also describes the most current tests that can diagnose or predict genetic disorders or that can detect carriers of many different harmful genes.

"Remarkable advances in genetic testing, coupled with people recognizing genetic and familial risk factors, frequently enable avoidance or prevention of serious or lethal genetic disorders and even important treatment," said Milunsky. "By knowing your genes, you may save your life and the lives of those you love."

Milunsky's research accomplishments include leading the research team responsible for first locating the gene for X-linked lymphoproliferative disease and cloning the PAX 3 gene for Waardenburg syndrome. As principal investigator, he also led a team that was the first to demonstrate that 70 percent of spina bifida cases could be avoided by folic acid supplementation taken 3 months prior to pregnancy and 3 months after conception.

Milunsky joined the Boston University community in 1982 when he was named Founding Director of the Center for Human Genetics and appointed Professor of Pediatrics and Obstetrics and Gynecology, both at BUSM. He became a Professor of Pathology in 1985, and in 1991 became the first Endowed Chair in Human Genetics at BUSM, which will be named for him upon his retirement. He has been honored by election as a Fellow of the Royal College of Physicians of England and as a member of the Society for Pediatric Research and the American Pediatrics Society. He is also a Founding Fellow of the American College of Medical Genetics.

In addition to his academic and research successes, Milunsky is the author or co-author of more than 400 scientific communications and author, editor or co-editor of 24 books.

Your Genes, Your Health: A Critical Family Guide That Could Save Your Life, was published by Oxford University Press and is available now to the public.

Provided by Boston University Medical Center