Through clinical care, research, and advocacy, the Rett Syndrome and Related Disorders Program of GGC’s Center for Translational Research is dedicated to the benefit of all individuals and families impacted by these conditions.
Rett Syndrome Pediatric Multidisciplinary Clinic – held in conjunction with the Greenville Health System and Shriners Hospital for Children in Greenville, SC. Includes genetics, neurology, developmental pediatrics, physical therapy, and occupational therapy. Contact: Jennifer Stallworth, MS, CGC at (864) 678-7888 or firstname.lastname@example.org.
Diagnostic Testing – GGC was one of the first labs to offer testing for MECP2, the gene associated with Rett syndrome. The laboratory also offers testing for other genes for related conditions including FOXG1, CDKL5, as well as a Rett/Angelman NGS panel.
Outcome Measures – The CTR is actively developing outcome measures to quantify the success of future treatments including neaurobehavioral measures, molecular and biochemical markers, quality of life measures, and markers of neurobehavioral function using wearable technology.
Collaborations Clemson University – big data analysis and machine learning using data from the Rett Natural History Study and development of wearable technology to provide outcome measures Massachusetts Institute of Technology – blood-based marker and wearable technology development
Rett syndrome-related publications from the program (2015-17) (pdf)
Development of research agendas, white papers and health economics documents
Leadership on numerous key panels and committees (pdf)
When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.
Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...