May 29, 2012

David L. Rimoin, MD, PhD,  director of the Cedars-Sinai Medical Genetics Institute, a pioneer in research in skeletal disorders and abnormalities who played a pivotal role in developing mass screenings for Tay-Sachs and other heritable disorders, died early Sunday in Los Angeles. He was 75. 

Rimoin, Cedars-Sinai’s Steven Spielberg Family Chair in Pediatrics, died after a diagnosis of Stage 4 pancreatic cancer in early May. 

Beloved throughout the academic medical world as a mentor who demonstrated model dedication, compassion, kindness, humor and personal balance to colleagues and dozens and dozens of physicians and scientists, many of whom would become leaders in the field, Rimoin was just the second member of his extended family to go to college.

He became a member of the Institute of Medicine of the National Academy of Sciences, a Master in the American College of Physicians and an Honorary Life member of Little People of America. From 1979 to 1983, Rimoin served as founding president of the American Board of Medical Genetics, formed to improve the standards of care in the area of medical genetics.

Rimoin, a longtime Beverly Hills resident who was a devoted husband and father, is survived by his wife, Ann, and three children. While his funeral will be closed, planning is under way for a public memorial. 

“David Rimoin was a magnificent scientist and physician whose contributions were global in scale,” said Thomas M. Priselac, president and CEO of Cedars-Sinai. “The arrival of David and his team in 1986 represented an essential element of the foundation on which Cedars-Sinai’s academic mission has grown and flourished over the years. His kindness and his grace were without equal.”

Working with Michael M. Kaback, MD, Rimoin played a fundamental role in developing mass screenings for Tay-Sachs, a rare and fatal genetic disorder that affected the Ashkenazi Jewish population in the United States and Israel. The Tay-Sachs testings were the first large-scale genetic screening and have virtually eliminated the disease.

“We have lost a giant in medicine,” said Lawrence B. Platt, chair of the Cedars-Sinai Board of Directors. “For those of us who had the great fortune of having David in our lives, we have lost a cherished friend. David touched the lives of so many people in such significant ways that his passing leaves a void that will never be filled.”

For 18 years prior to founding the Medical Genetics Institute in 2004, Rimoin served as chair of the Cedars-Sinai Department of Pediatrics. Before joining Cedars-Sinai in 1986, Rimoin served as chief of the Division of Medical Genetics at Harbor-UCLA Medical Center. He also was director of the Genetics Clinic at the Washington University School of Medicine in St. Louis.

Rimoin’s primary research focused on medical genetics, specifically short stature and skeletal dysplasias – a group of disorders associated with abnormalities in the size and shape of the limbs, torso and skull – as well as heritable disorders of connective tissue. He founded and directed the International Skeletal Dysplasia Registry, the largest such registry in the world and wrote a primary textbook, “Emery and Rimoin’s Principles and Practices of Medical Genetics,” now in its sixth edition. 

Rimoin also established the GenRISK Adult Genetics Program at Cedars-Sinai in 1986, committed to providing comprehensive risk assessment for a variety of adult onset diseases including cancer, heart disease, diabetes and stroke. Recently, Rimoin designed a unique genetic screening program to test for four common inherited disorders within the Persian Jewish population including anesthesia sensitivity, a salt-losing disorder, a multiple hormone deficiency and hereditary muscle disorder.

He also was working on ways that state-of-the-art technology could expand the access and convenience while reducing the costs of key medical genetics tests.

“David was a prince of academic medicine,” said Shlomo Melmed, MB, ChB, Cedars-Sinai’s senior vice president for Academic Affairs, dean of the Medical Faculty and the Helene A. and Philip E. Hixon Chair in Investigative Medicine. “He was the trailblazer for integrating translational science with clinical care and epitomized this vision and leadership for Cedars-Sinai and the nation.”

Born in Montreal, Canada in 1936, Rimoin earned his bachelor’s degree with honors from McGill University in Montreal in 1957 and his medical and master of science in genetics degrees from McGill University in 1961. While attending McGill, Rimoin secured his first job in genetics:  Examining female lab mice to determine whether they were pregnant – a job so unusual that he often joked he should appear on the TV game show “What’s My Line?” 

After two years of internship and residency at the Royal Victoria in Montreal, Rimoin moved to Johns Hopkins Hospital in Baltimore to complete his medical residency. There he earned a PhD in medical genetics and began his work with Victor McKusick, widely regarded as the “father of medical genetics.” Rimoin also began there his studies in the hereditary aspects of endocrine disorders, including diabetes mellitus, growth-hormone-deficient states and dwarfism.

A chance encounter with a young, short-statured woman during consultations on the wards at Johns Hopkins launched his research into skeletal disorders and abnormalities. His research on that and other topics took him around the world, working with circus performers, pygmies in Africa, the Navajo and other distinctive groups.  He was an avid traveler throughout his life—an enthusiasm he shared readily with others.

In 1986, to back in a big way the work Rimoin led at Cedars-Sinai’s Medical Genetics Institute, dozens of dedicated supporters launched the Sports Spectacular, an annual event that over the years has honored the elite of the athletic world such as Muhammad Ali, the U.S. women’s hockey team, John Wooden and Blake Griffin. Sports Spectacular has raised more than $21 million, with one of the largest sums going to support fellows who will become tomorrow’s outstanding medical leaders, researchers and physicians. 

Rimoin, a beach- and pool-lover who also was a dedicated gym-goer, expressed his gratitude often for the support he received, especially from the sports community, which in one of its many humor-laden fund-raisers paused to bestow a surprise honor on him. Kobe Bryant praised Rimoin for doing “the impossible” and called him and his medical colleagues a “blessing.” In typical fashion, Rimoin deflected attention from himself when accepting his award, instead, pointing out that he was honored that his mentor, McKusick, was present at the event.

“David had so much success but he was the most incredibly humble person, except when it came to bragging about his kids and supporting his family,” said his wife, Ann. “He was wise, knew how to laugh, especially at himself, and he was the kindest man any of us knew – he showed us that kindness is the most important quality in a father, husband, friend and doctor.”