Reed E. Pyeritz, pioneering medical geneticist and Penn professor emeritus, has died at 78

Reed E. Pyeritz, 78, of Radnor, pioneering medical geneticist, cofounder of the Marfan Foundation and the American College of Medical Genetics and Genomics, professor emeritus of medicine and genetics at the University of Pennsylvania, author, mentor, veteran, and nationally ranked masters triathlete, died Monday, Aug. 10, of interstitial lung disease at Bryn Mawr Hospital.

Dr. Pyeritz was an trailblazing expert on the diagnosis and treatment of Marfan syndrome and other inherited cardiovascular disorders. His 44 years of research and clinical work, from 1978 to 2022, advanced the understanding and management of the diseases, and extended the life expectancy of Marfan patients by 30 years.

“So many of us in the community owe Reed so much,” Bert Medina, board chair of the Marfan Foundation, said in a tribute. “His legacy lives on in all of us, thanks to his dedication.”

In an online tribute, a relative of former patients said: “Without this amazing doctor, I wouldn’t have my sister or dad. He changed the world for Marfan patients and their families.”

Dr. Pyeritz joined the faculty at Penn in 2001 and spent more than 20 years treating patients, teaching students, doing landmark studies on the value and social implications of genetic testing, and championing patient-centered care. He was codirector of Penn’s research center on hereditary hemorrhagic telangiectasia, one-time chair of the faculty senate, and a fellow at the College of Physicians of Philadelphia and other medical associations.

His “vision and scholarship fundamentally transformed the care of patients,” Nimesh D. Desai, director of the Penn Aorta Center, said on X.

Before Penn, Dr. Pyeritz spent nine years in Pittsburgh with what is now the Allegheny Health Network and 17 years at the Johns Hopkins University School of Medicine in Baltimore. In 1991, his team at Hopkins discovered that mutations in the FBN1 gene causes Marfan syndrome and followed up with new regimens to treat it.

He cofounded the Marfan Foundation in 1981 and the American College of Medical Genetics and Genomics in 1991. “It became clear that folks with Marfan syndrome could benefit by an organization that allowed them to communicate [and] to stimulate other physicians to become involved,” he said in a 2018 video interview.

Colleagues, friends, and former patients called him “a phenomenal physician,” “a guiding light,” and “an extraordinarily reassuring presence” in online tributes. In 2018, he said: “The most gratifying thing is the fact that folks [with Marfan syndrome] are living their normal life expectancy.”

Dianna Milewicz, chair of the John Ritter Foundation advisory board, noted his “excellence in clinical care, teaching, and research” on Facebook. Michael L. Weamer, president and CEO of the Marfan Foundation, called him “a true hero” and said his “impact on our community is immeasurable.”

Dr. Pyeritz edited medical reference books and wrote The Marfan Syndrome and Uncertain Precision: Managing Health Care with Personalized Technologies. More than 700 of his research studies, reviews, and book chapters were published.

He served 13 years in the Army Reserve Medical Corps and earned lifetime achievement awards from the Marfan Foundation, the American College of Medical Genetics and Genomics, and other groups.

On weekends, he did marathons and triathlons, and was part of a world record 100-man, 100-mile relay. His family said in a tribute: “He measured a successful life less by titles or awards than by what one gives, what one learns, whom one loves, and what one leaves behind in others.”

Reed Edwin Pyeritz was born Nov. 2, 1947, in Pittsburgh. He was fascinated by science and space as a boy, and he built rockets in his backyard and performed scientific experiments in his bedroom.

He earned a bachelor’s degree in chemistry at the University of Delaware in 1968, a master’s degree and doctorate in biological chemistry at Harvard University in 1972, and his medical degree at Harvard in 1975.

He met Jane Tumpson in first grade, and they graduated together at Mt. Lebanon High School near Pittsburgh in 1965. They reconnected on the tennis court a few years later, married in 1972, and had daughters Allyson and Abigail.

Dr. Pyeritz and his wife honeymooned on Mt. Kilimanjaro in Africa and traveled the world together for years. In April, the whole family went to Spain.

He liked to wear bow ties, build stone walls, watch the news, and spend time outside with his dogs. He followed the Pittsburgh pro sports teams closely and enjoyed Manhattans and chocolate milkshakes.

“I will miss it all,” he told colleagues at Cure HHT when he retired a few years ago. “But I am certainly looking forward to spending time with my two granddaughters, Tallulah and Penelope.”

His daughters said: “Ever an adventurer, he instilled in us the importance of making the most of every day, watching the sunrise or sunset, and cherishing the time you have.”

His wife said: “He loved without exception and reservation.”

In addition to his wife, daughters, and granddaughters, Dr. Pyeritz is survived by son-in-law Keith Hopkins and other relatives. A brother died earlier.

A celebration of his life is to be held later.

Donations in his name may be made to the Marfan Foundation, 22 Manhasset Ave., Port Washington, N.Y. 11050.