Rett Syndrome Program

What is Rett Syndrome?

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.

GGC is a proud recipient of the Rettsyndrome.org designation as a Clinical Research Center of Excellence!

Clinical Care

• 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: Kimberly Ivery, LPN at (864) 240-3146 or kivery@shrinet.org
• Rett Syndrome Adult Clinic – Appointments available at the Greenwood and Greenville offices.
• 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.

Research

• NIH-funded Rett Syndrome Natural History Study
• Intervention studiesNeuren Pharmaceuticals’ trofinetide trial successes
• Outcome Measures – GGC 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.
• Rett syndrome-related publications from the Program (2015-17) (pdf)

Advocacy

• Development of research agendas, white papers and health economics documents
• Leadership on numerous key panels and committees (pdf)

Download our Rett program brochure (pdf)