Rett Syndrome and Related Disorders

 Rett pic SAS

October is Rett Syndrome Awareness Month - View the SC Proclamation!

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 receipient of the Rettsyndrome.org designation as a Clinical Research Center of Excellence!

Clinical Care

Research

  • NIH-funded Rett Syndrome Natural History Study
  • Intervention studies
               Neuren Pharmaceuticals' trofinetide trial successes      
  • 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)

 

Contact Us

Greenwood Genetic Center
Center for Translational Research
14 Edgewood Drive
Greenville, SC 29605
(864) 672-6895

Email

Rett Program Faculty

Walter E. Kaufmann, MD
     Ravenel Boykin Curry Chair in Genetic Therapeutics
     Director, Center for Translational Research

Steve A. Skinner, MD
     Director, Greenwood Genetic Center

Fran Annese, LMSW - clinical research coordinator
Lauren Baggett, MS, CGC - clinical genetic counselor
Carrie Buchanan, MD - developmental-behavioral
                                    pediatrician
David Everman, MD - clinical geneticist
Jennifer Stallworth, MS, CGC - program manager
Aubin Tierney - research assistant
Hannah Warren, MS, CGC - clinical genetic counselor

Get Involved!

Please join us in supporting this vital research by contacting the GGC Foundation.

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(864) 388-1801
vhann@ggc.org