Doctor working with patient with Rett Syndrome

Rett Syndrome and Related Disorders

October is Rett Syndrome Awareness Month 

What is Rett syndrome? - video by Alan Percy, MD

GGC's Rett syndrome program - video by Steve Skinner, MD and Carrie Buchanan, MD

 

More about 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 receipient 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@shrinenet.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.

Research

  • 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)

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)

Meet The Jones Family

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. ...

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