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Clinical Professors

Clinical Professors, Roger E. Stevenson, MD at the School of Health Research, Clemson University, Clemson South Carolina

Roger E. Stevenson, M.D.

Senior Clinical Geneticist
Greenwood Genetic Center

Contact: 864-941-8146 or res@ggc.org  


Who is Dr. Stevenson?

A native of South Carolina, Roger Stevenson received his undergraduate degree in biology from Furman University, his MD from Bowman Gray School of Medicine, and completed pediatric residency, metabolism fellowship and genetics fellowship at Johns Hopkins Hospital. He served as a captain in the United States Air Force Medical Corp.

Dr. Stevenson took an academic appointment as an assistant professor of pediatrics at the University of Texas Medical School in Houston, before returning to South Carolina in 1974 to establish the Greenwood Genetic Center. The Center has become the premier genetics institution in the state with medical genetics training programs, clinics, diagnostic laboratories, and research programs in Greenwood and clinics in Charleston, Columbia, Greenville and Florence.

Dr. Stevenson’s career has been focused on birth defects, intellectual disability, autism, and related disorders. He is board certified in pediatrics, clinical genetics, and cytogenetics. He has authored 227 publications including three editions of Human Malformations and Related Anomalies, two editions of an Atlas of X-linked Intellectual Disability Syndromes and two editions of The Fetus and Newly Born Infant: Influences of the Prenatal Environment.

In 2011, Dr. Stevenson was inducted into the Johns Hopkins University Society of Scholars. He was awarded South Carolina’s highest civilian honor, The Order of the Palmetto, in 1985 and has received honorary degrees from Furman University, Lander University and Clemson University.

For more information, see his Curriculum Vitae.

How Dr. Stevenson’s research is transforming health care

Birth defects. Study of the embryological anarchy produced by various genetic and environmental influences that lead to birth defects has been a career-long focus of his study and scholarly works. This pursuit began during medical school with delineation of the effects of maternal phenylketonuria on the developing fetus. Later investigations explored the mechanisms by which sirenomelia, gastroschisis, limb-body wall defects, neural tube defects, and other malformations occur. These studies resulted in numerous peer-reviewed publications and two books (The Fetus and Newly Born Infant, Influences of the Prenatal Environment, WB Saunders 1971, 1977; Human Malformations and Related Anomalies, Oxford, 1985, 2006, 2015). He is one of the 5 organizing members of the David W. Smith Workshop on Malformations and Morphogenesis, an annual international meeting devoted to understanding the mechanisms by which birth defects occur. In 1992, He established the first statewide neural tube defect surveillance program. This model program continues today and has resulted in a greater than a 50% reduction in the number of neural tube defects in South Carolina, a high risk geographic region for these defects.

Intellectual Disability. Delineation of the causes of intellectual disability, the associated environmental and genetic syndromes, and strategies for prevention or curative therapies comprise the second area of Dr. Stevenson’s research endeavors. Early in his career, his focus was on metabolic disturbances that have intellectual disability as a component manifestation; beginning in the late 1980s, the focus shifted to X-linked intellectual disability. The latter studies were conducted in collaboration with Dr. Charles Schwartz and other investigators in the United States, Europe, Australia, South Africa and South America with whom 28 XLID syndromes were clinically defined/refined, 19 XLID syndromes were mapped and 24 causative genes were identified, resulting in 102 peer-reviewed publications and one book (Atlas of X-Linked Disability Syndromes, Oxford, 2000, 2012). He co-hosted the 12th International Conference on Fragile X and X-linked intellectual disability (Williamsburg, VA, 2005).

Autism. The failure of traditional genetic approaches to solve the enigma of autism prompted Dr. Stevenson’s research into this frequent childhood disability. Beginning in 1995, he began organizing well-phenotyped cohorts of children with autism for longitudinal and intensive inquiry into potential genetic, genomic, epigenetic, and metabolic contribution to this casually heterogeneous disability. He has directed the South Carolina Autism Project: A Search for Causes which identified several specific genetic and epigenetic etiologies of autism and now is exploring global disturbances in metabolism which appear to be the most consistent laboratory findings.

News and Media Related to Dr. Stevenson's Research

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

Autism – Prevention, Amelioration or Cure?

GGC Receives SC DDSN Grant for Innovative Autism Services

Number of Neural Tube Defects Increases in SC

Autism Program Update

GGC Researchers Honored by Snyder-Robinson Foundation

GGC Reports Autism Discovery


Key Health Research Interest Areas

Autism Spectrum Disorder, Intellectual Disability, Birth Defects, Neural Tube Defects, Genetic causes of childhood disabilities, Lysosomal Storage Diseases