Fragile X Research

We are excited to announce a new study at the Emory University Fragile X Center.  We are now enrolling participants in our study called "Modifiers of Fragile X-Associated Disorders (FX-MOD) study." The goal of this study is to discover genes that affect the risk and severity of three fragile X-associated disorders: FXTAS, FXPOI, and seizures in individuals with FXS.  Our goal is to find risk genes that will help identify people with the fragile X mutation who are at risk for these disorders before symptoms occur.  That way, they will be more informed about their health and will have more potential treatments available.  Also, we hope the results from this study will help find new avenues for potential treatments.

Modifiers of seizures in individuals with FXS

Seizure disorders affect about 15% of children with fragile X syndrome (FXS) and can lead to increased severity of symptoms.  Our goal is to discover genes that modify the risk for seizures in individuals with FXS.

Study Groups:

  • Group 1: individuals with FXS, who have had at least one seizure
  • Group 2: males with FXS, age 17-50, with no history of seizures

Study Activities:

  • medical history
  • DNA sample for whole genome sequencing (blood or saliva)

To learn more about this study, please contact Krista Charen at krista.charen@emory.edu or 404-778-8479.

Modifiers of FXTAS in individuals with the premutation

Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurological disorder that affects about 40% of older men who carry the premutation and some women.  Our goal is to discover genes that modify the risk and severity of FXTAS.

Study Groups:

  • Group 1: individuals with premutation, age 50-90, with early symptoms of FXTAS
  • Group 2: males with premutation, age 70-90, who had not tremor or balance problem before the age of 70

the Study Activities:

  • medical history review
  • neurological exam (for a select few)
  • DNA sample for whole genome sequencing (blood or saliva)

To learn more about this study , please contact  Lisa Shubeck  at lshubec@emory.edu  , 404-778-8478

Modifiers of FXPOI in women with the premutation

Fragile X-associated primary ovarian insufficiency (FXPOI) leads to reduced ovarian function and sub-fertility.  It affects about 20% of women with the premutation.  Our goal is to discover genes that modify the risk and severity of FXPOI.

Study Groups:

  • Group 1: females with premutation, age 18-75, with early symptoms of FXPOI
  • Group 2: females with premutation, age 51-75, with age at menopause >50 years

Study Activities:

  • medical history review
  • DNA sample for whole genome sequencing (blood or saliva)
  • health and well-being questionnaires

To learn more about this study , please contact  Krista Charen  at krista.charen@emory.edu  , 404-778-8479