Dr. David L. Rimoin epitomized how the curiosity of the human mind can lead science into entirely new frontiers. His efforts helped start and shape the complex field of medical genetics, which today is opening up new understanding of human health that has the potential to be especially powerful for patients with rare diseases.
Dr. Rimoin saw connections where others did not. His work began with exploring the hereditary of short-statured individuals (dwarfism). His subsequent explorations showed a variety of genetic abnormalities could cause diabetes and gave him an influential role in establishing Tay-Sachs disease screening.1,2 Along the way, he served as an inspiration to many.
Rimoin was keenly interested in genetics from the start while at McGill University, earning his undergraduate, masters and medical degrees.3 In 1964, he began a residency in internal medicine at Johns Hopkins University, training also in pediatrics and medical genetics. He earned a doctorate degree in human genetics in 1967, and investigated the genetics of endocrine disorders with genetics pioneer Victor McKusick, M.D.4 His work in these early days showed how two disparate conditions—dwarfism and diabetes—each were genetically linked conditions.
As his career progressed, Rimoin became a pioneer for genetics clinical care and education. He founded the Medical Genetics Clinic at Washington University in St. Louis, Mo. and taught one of the first courses in medical genetics as part of a regular medical school curriculum. He also coauthored the ground-breaking text Genetic Disorders of the Endocrine Glands with the endocrine specialist R. Neil Schimke, M.D., a text still in use today.
In 1970, Rimoin moved to Harbor-UCLA Medical Center in Los Angeles to become chief of the division of medical genetics, where he established a new medical genetics program that mentored several research investigators and clinicians who profoundly impacted medical genetics.
As he was advancing clinical practice, Rimoin continued his research. Along with Michael Kaback, M.D., another renowned geneticist, he set up the first large- scale genetic screening program for the deadly disease Tay-Sachs, a hereditary disease frequently found in the Ashkenazi Jewish population.5 The duo instituted Tay-Sachs screening first in California, then throughout the Jewish world. Thanks to their efforts, the incidence of Tay-Sachs, an autosomal recessive disorder, has been reduced by 90 percent.6
Again and again, Rimoin’s curiosity about the genetic causes of disease led him to find new ways to help patients. Rimoin served as founding president of the American Board of Medical Genetics (ABMG), which improved standards of care in medical genetics and he helped establish both the American Board of Medical Genetics Counseling and the National Society of Genetic Counselors.7,8
Rimoin’s decades of work advancing both the science and practice of clinical genetics were validated when medical genetics received approval as the 24th full medical specialty of the American Board of Medical Specialties.9 Throughout, he was a regular recipient of some of the highest honors in the scientific community, including his election to the Institute of Medicine of the National Academy of Sciences and fellowship in the American Association for the Advancement of Science.10
Today, genetics are at the core of our understanding of a vast array of diseases, particularly rare diseases, and the field of clinical genetics is among the most active and growing in modern medicine. Rimoin’s curiosity propelled decades of progress in the area, which ultimately can be best understood in the lives helped as diseases are better understood and treated. Scientists at Shire stand in admiration of Rimoin’s profound impact on medicine and work to build on his contributions to help patients worldwide.