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Greenwood Genetic Center Founder Honored
SEATTLE, WA – GGC co-founder and senior clinical geneticist, Roger E. Stevenson, MD, has been honored with ‘The ACMG Foundation David L. Rimoin Lifetime Achievement Award in Medical Genetics’ at the college’s annual meeting in Seattle. Stevenson, a native of Neeses, SC, is a 1962 graduate of Furman University and received his MD from Bowman Gray School of Medicine at Wake Forest, where as a medical student, he set up the school’s first chromosome lab and made a groundbreaking discovery about the risk of birth defects in mothers with PKU, a rare inherited metabolic disorder. He proceeded to Johns Hopkins University School of Medicine where he completed a pediatric residency and research fellowship. It was there he studied under some of the giants of the emerging field of medical genetics and was a contemporary of the award’s namesake, Dr. David Rimoin. While studying at Johns Hopkins, Stevenson met another research fellow, Harold Taylor, PhD, with whom he formed the Greenwood Genetic Center in 1974 with support from Greenwood businessman and philanthropist Jim Self and the SC Department of Disabilities and Special Needs (DDSN). Since that time Stevenson has led the Center to international acclaim in clinical services, diagnostic testing, research, and educational programs. With special interests in intellectual disability, birth defects, and autism, Stevenson has contributed broadly to the field of medical genetics. He has published over 200 scientific papers, and numerous books, including the widely utilized reference text, ‘Human Malformations and Related Anomalies’ which he coauthored with the 2018 Rimoin honoree, Dr. Judith Hall. Along with GGC colleagues, he cowrote ‘The Atlas of X-Linked Intellectual Disability Syndromes,’ and just last month released ‘Overgrowth Syndromes: A Clinical Guide.’ In 1978, he identified a rare genetic disorder that bears his name, Beare-Stevenson syndrome, and several other disorders that, because of his tendency to avoid personal recognition, do not. Over the past twenty years, he and GGC research colleagues have identified nearly 1/3 of all known genes on the X chromosome that lead to intellectual disability, making GGC the international authority in this area of medical genetics.
Another of Stevenson’s passions lies in the area of birth defects prevention. In 1992, in collaboration with SC DDSN, Department of Health and Environmental Control, and the March of Dimes, he founded the SC Birth Defects Prevention Program at GGC which has led to a 60% decline in severe defects of the brain and spine in SC. He champions efforts to educate the population on the importance of folic acid as a preventative supplement and led the charge to fortify dietary staples such as breads, pasta, and cereals with folic acid to help prevent these birth defects. This program has been hailed as a model for other states, and even other nations, by the Centers for Disease Control and Prevention.
“Roger could have been Chairman of any department of genetics in the country and would likely have been a medical school dean had he chosen that path,” said Godfrey Oakley, MD, Stevenson’s medical school colleague and Director of the Center for Spina Bifida Prevention at Emory’s Rollins School of Public Health, “but he chose an important different track to the benefit of children and families worldwide.” In 1995, Stevenson helped start the SC Autism Project, an initiative to uncover the genetic causes of this increasingly common diagnosis. His work on autism continues with a current effort to develop a blood-based autism test, and he is actively involved in researching personalized treatments. Stevenson also holds a passion and a talent for teaching. GGC’s Medical Genetics Training Program has educated dozens of MD and PhD geneticists who count him as their mentor. “The defining features of my genetics training were shaped by Dr. Stevenson,” shared Sara Cathey, MD, a clinical geneticist at GGC and graduate of the Center’s training program.
Despite his many national and international accolades and prominence in the field, Stevenson continues to prioritize patient care. He is highly regarded by his patients and their families, not because of awards or publications, but because of his gentle nature and genuine compassion and concern for those he serves. “Roger has an instinctive manner with families that puts them at ease and lets them know that he views their child as the most important person in the room,” shared Katy Phelan, PhD, a trainee and former laboratory director at GGC.
After relinquishing role of GGC Director in 2011, Stevenson continued an active clinical practice and is very involved in research, particularly as it relates to treatment of genetic disorders. He currently serves as the Ravenel Boykin Curry Chair in Genetic Therapeutics at GGC. In this role, he oversees the Center’s treatment initiatives and works toward developing and delivering novel treatments such as gene therapy and gene editing. “Roger has always been about ten years ahead of everyone in seeing what is important, what the new developments were, and putting them into practice,” shared Judith Hall, MD, Stevenson’s colleague at Johns Hopkins, and longtime friend and collaborator. GGC Director, Steve Skinner, MD, commented, “Beyond the respect I have for Roger as a clinician, scientist, and educator, I have even greater regard for him as a man. While accolades and achievements can often lead to arrogance and pride – Roger embodies the opposite traits. He sees his work as that of a servant providing care and hope to families struggling with difficult circumstances.” GGC Clinical Geneticist David Everman, MD, agrees “From the moment I met Roger, he has never been anything except kind, forward-thinking, compassionate, and genuinely interested in impacting the world around him in the smallest or largest of ways, with the utmost humility every step of the way.” Skinner continues, “Roger actively avoids the spotlight, but is quick to point out the contributions of others. Though he would disagree, those of us who are privileged to work with him on a daily basis understand that it was his vision that created GGC and his persistence, will, and sheer determination that has turned it into the success it is today.” Stevenson was nominated for the honor by a variety of colleagues from GGC, the University of South Carolina School of Medicine, Emory University, Baylor College of Medicine, University of North Carolina, University of Miami, the University of California San Diego, and the University of British Columbia. The award recognizes an individual in the medical genetic profession who exemplifies a lifetime of achievements including a passion for teaching and mentoring, care of patients and their families, and enthusiasm for integrating the medical genetics and genomics community into mainstream healthcare. Rimoin was the founding president of ACMG and a pioneer in the understanding of genetic disorders of the skeleton. The award is presented annually by the ACMG Foundation and was renamed in honor of Rimoin after his death in 2012.
