Mt. Lebanon native Reed Pyeritz is the recipient of the 2023 David L. Rimoin Lifetime Achievement Award in Medical Genetics from the American College of Medical Genetics and Genomic Medicine. An internationally acclaimed medical geneticist, he is the William Smilow Professor of Medicine emeritus at the University of Pennsylvania Perelman School of Medicine.
Pyeritz grew up on Moreland Drive and later Salem Drive, and graduated from Mt. Lebanon High School in 1965, along with his wife, Jane Tumpson, whom he met in first grade at Jefferson Elementary School. He cites Dr. Charles Beck’s AP chemistry class in high school as the spark for his interest in chemistry, which led to an undergraduate major in biochemistry at the University of Delaware.
From there he enrolled in a graduate biochemistry program at Harvard University. After his advisor invited him to witness one of the very first amniocentesis procedures done in Boston, Pyeritz began to think about medical school.
“I was absolutely fascinated by this idea that you could use what were then very high-tech genetic methods to diagnose an unborn baby,” he said. “I began to wonder how else genetics could be applied to medicine.”
After receiving a Ph.D. in biological chemistry at Harvard, he enrolled in its medical school, intent on a career in medical genetics. A fellowship at Johns Hopkins followed, where the young doctor worked with one of the founding fathers of medical genetics, Dr. Victor McKusick. Pyeritz subsequently joined the faculty.
The award recognizes his decades of pioneering work on Marfan Syndrome, a disease of the connective tissue, among other work. Pyeritz led many of the seminal studies and clinical trials responsible for extending the average lifespan of Marfan patients from 40 to 70 years. He has published more than 700 research articles and reviews and is co-editor of the standard textbook in medical genetics.
“When I started at Johns Hopkins, life expectancy in Marfan was maybe 40 years,” said Pyeritz. “The reason was that the aorta expanded and tore, leading to sudden death. What I did was start a clinical trial using a beta blocker, a medicine commonly used to reduce blood pressure, which reduced the stress on the aorta and slowed the rate of enlargement. And we instituted a policy to do preventive repair on the aorta when it got to be a certain size. That resulted in saving many people’s lives because they had the aorta replaced before it tore.”
Pyeritz and his family returned briefly to Pittsburgh in the early ’90s, when he accepted an offer to lead an institute for human genetics at Allegheny General. “We wanted to get back to Pittsburgh,” he said, “because both Jane’s and my parents were still alive and living in Mt. Lebanon. They subsequently passed, but it was important that we were around for that time.”
Later his career took him to the Medical College of Pennsylvania from 1993 to 2001 and then the University of Pennsylvania School of Medicine from 2001 until his retirement in 2020.
Pyeritz had seen the success of family support groups for other genetic diseases and in 1979 he began organizing an informal group for people with Marfan Syndrome. He gathered several patients, genetic counselors, and a social worker in a colleague’s living room. That meeting led to the incorporation of the Marfan Foundation, a patient support organization with thousands of members and an annual meeting that attracts 600 to 800 people.
Pyeritz was also a competitive runner for many years, was a nationally ranked triathlete, and co-held a world record for the 100-man, 100-mile relay. “Running was something that was very important to me and my wife for two decades. It’s something our kids took up, too.” He and his wife have been married for 50 years and have two daughters and two granddaughters.
Although he has retired from official clinical duties, Pyeritz remains involved in Marfan Syndrome research, training, and outreach. He is currently working on the seventh edition of his textbook on medical genetics, and is writing a book on precision medicine, an innovative approach to tailoring disease prevention and treatment that takes into account differences in people’s genes, environments, and lifestyles.