Innovative Research

Research photo 2012

Watch our Research video

Genetic knowledge is advancing at a rapid pace. The research faculty of the Greenwood Genetic Center‘s JC Self Research Institute of Human Genetics is proud to be at the forefront of genetic discovery and breakthroughs. Our researchers collaborate with our clinicians and laboratory faculty to achieve significant advances in identifying causative genes and mutations, as well as understanding the mechanisms, causes and preventions of intellectual disabilities and birth defects.

Research Focus: X-Linked Intellectual Disabilities

The primary research focus at GGC is the area of X-linked intellectual disabilities. Our scientists are known and respected worldwide as experts in this field. Other current areas of research interest include:

Birth Defects Prevention

Our research division is home to the South Carolina Birth Defects Prevention Program, which is successfully leading the effort to reduce the incidence of birth defects, such as neural tube defects, within South Carolina. We also provide fetal autopsy examinations through the Center for Anatomic Studies to assist physicians and families in understanding the causes of birth defects and genetic anomalies.

Understanding Birth Defects and Intellectual Disabilities

The JC Self Research Institute, a division of Greenwood Genetic Center, is a state and national resource where scientists seek a greater understanding of the causes, treatment, and prevention of birth defects and intellectual disabilities. Whether mapping part of the vast unknown areas of the human genome, studying the effects of a single gene gone awry, or putting into practice a strategy for families to avoid hereditary disease, scientists at the Institute work to bring the next generation closer to the goal of having all babies born healthy and free of physical and intellectual disabilities.

Research Sample Forms

Research Sample Form to be submitted with all molecular research samples.

Metabolomics Request Form to be submitted with all metabolic profiling samples.


Research Directors and Staff

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Faculty Spotlight

Dr. Walter E. Kaufmann
Ravenel Boykin Curry Chair in Genetic Therapeutics
Dr. Kaufmann is leading the Center's treatment initiatives. He is involved in clinical trials and research to advance treatment options for patients with genetic disorders

Study Participation

GGC is seeking families with a child under 18 months of age for a prospective study on childhood development.

More information

Helix & Hope

GGC and Project Hope Foundation have joined forces in a new autism collaboration. Learn more about Helix & Hope and how you can help!