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 of 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:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies 
lshubec@emory.edu
404-778-8478

Modifiers of FXTAS in individuals with 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 did not have tremor or balance problem before the age of 70

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
lshubec@emory.edu
404-778-8478

Modifiers of FXPOI in women a 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:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies 
lshubec@emory.edu
404-778-8478

Fragile X-associated Primary Ovarian Insufficiency (FXPOI): elucidating environmental risk factors

Fragile X-associated Primary Ovarian Insufficiency (FXPOI): elucidating environmental risk factors

Funded through the Emory NIH-funded HERCULES Exposome Research Center

This project focuses on identifying environmental risk factors associated with fragile X-associated primary ovarian insufficiency (FXPOI). FXPOI, cessation of menses before the age of 40, occurs in ~20-30% of women who carry a premutation (PM) form (55-200 CGG repeats) of the FMR1 gene. Why only some women with a PM suffer from ovarian dysfunction and others do not is unknown. To better understand this, we are conducting surveys on residential and occupational history and performing metabolomic analyses to identify environmental factors for age at menopause (AAM) in PM women. Identifying environmental risk factors or metabolites associated with AAM may lead to novel strategies for early detection, prevention, and treatment. By improving our ability to identify which women with a PM are at greatest risk for FXPOI, we have the potential of enabling these women to better meet their family planning goals.

To learn more about this study, please contact:

Lisa Shubeck, Clinical Research Coordinator, Fragile X Studies 
lshubec@emory.edu
404-778-8478