GGC Fragile X Syndrome Program

What is Fragile X Syndrome?

Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity - National Fragile X Foundation

The Greenwood Genetic Center is part of the National Fragile X Clinical and Research Consortium, which is funded by the National Fragile X Foundation and the US Centers for Disease Control and Prevention.

Clinical Care

  • The Greenwood Genetic Center's Fragile X syndrome (FXS) clinics serve both pediatric and adult patients with FXS.
  • FXS clinics involve a clinical geneticist, genetic counselor, a developmental behavioral pediatrician and a neurologist.
  • GGC's FXS clinic can also assist with referrals to local medical specialists and behavioral and therapy services. Genetic testing is also available through GGC's Molecular Diagnostic Laboratory.
  • The Center's Greenville, SC office is the clinical home for the FXS clinic. Travel reimbursement to Greenville is available through the NFXF and the Fly with Me Fund. Clinic visits and research study enrollment in FORWARD can also be perfomed at other GGC locations and may include telemedicine and telegenetics.

Research

  • FORWARD: In collaboration with Emory University School of Medicine, GGC is a site of FORWARD (Fragile X Online Registry With Accessible Research Database), a multisite observational natural history study affiliated with the FXCRC. FORWARD acts as a research hub to connect patients to current projects.
  • Clinical Trials: GGC is involved in the oversight of the NeuroNEXT clincial trial NN107, the Effects of AFQ056 on Language and Learning in Young Children with Fragile X Syndrome (FXS), funded by the National Institiute of Neurological Disorders and Stoke (NINDS) of the National Institiutes of Health.
  • ASD in FXS: Research efforts of Dr. Kaufmann and the FXCRC have focused on the codiagnosis of autism spectrum disorder (ASD) and FXS. A publication in Pediatrics explores the impact of ASD codiagnosis in FXS in terms of neurologic and behavioral co-occurring conditions and treatment approaches.

GGC Open House

Thursday, October 5th
4:30-6:30pm

Ever wonder what really goes on at the Greenwood Genetic Center? How do the scientists discover genes and analyze chromosomes? What does that Gene Machine look like on the inside?

Well, here's your chance to see GGC at work firsthand.

As part of Gene Week 2017, you are invited to attend GGC's first ever Open House!

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GGC Gene Machine

Race the Helix - Lowcountry

SAVE THE DATE!

The 2nd annual Race the Helix - Lowcountry is scheduled for May 5, 2018

Details to come, but go ahead and amrk your calendars to join us in Charleston this spring!

To learn more about Race the Helix, the family that started it all, and the Greenwood Genetic Center, check out this video.

 

SC Autism Conference

GGC is proud to host the 1st South Carolina Autism Conference for the special education community.

Registration is now full.

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Helix & Hope

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'Helix & Hope' is an innovative collaboration in the world of autism that combines the scientific resources and expertise of the Greenwood Genetic Center with the proven therapeutic services, educational programs, and community outreach initiatives of Project Hope Foundation.

By sharing ideas, resources, and expertise, 'Helix & Hope' aims to:

  • Develop a blood-based test for autism for an accurate, objective, and early diagnosis;
  • Explore personalizing therapeutic methodologies to maximize effective outcomes;
  • Deliver Applied Behavioral Analysis (ABA) therapy and other currently existing therapies to people with autism
  • Provide educational and classroom models to support inclusion;
  • Formulate evidence-based medical treatment strategies; and
  • Enhance transition opportunities for adults with both job training and independent living skills.

Helix & Hope Case for Support

Helix & Hope Press Release