The University of South Carolina has been awarded a new NIH P50 Fragile X Center of Excellence for its project, “Translation of the FMR1 Premutation Phenotypes Across the Lifespan.” This Center brings together scientists, clinicians, and community partners to better understand how fragile X–associated conditions develop, evolve with age, and affect daily life – with the ultimate goal of advancing early detection and treatment.
The Center includes two major research projects:
- Project 1, led by Drs. Jane Roberts and Abigail Hogan, investigates social communication in preschoolers with the FMR1 premutation to identify early behavioral markers.
- Project 2, led by Dr. Jessica Klusek, studies FXTAS in women with the FMR1 premutation aged 35–80 to understand how clinical, genetic, and environmental factors influence symptom progression.
This collaborative effort includes experts from the University of South Carolina and key partners: Drs. Elizabeth Berry-Kravis and Lilly Zhou (Rush University), Dr. Tatyana Adayev (Research Foundation for Mental Hygiene), Dr. Jeff Twiss (University of South Carolina), Dr. Marsha Mailick (University of Wisconsin–Madison), Drs. Federico Rodriquez Porcel, Christine Cooper, and Judy Dubno (Medical University of South Carolina), and Ms. VeVe Davis-Schofield of the Donavan Angel Foundation. The Center is supported by the NIH’s Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), the National Institute on Deafness and Other Communication Disorders (NIDCD), and the National Institute of Mental Health (NIMH).
This achievement reflects the powerful impact of the Fragile X advocacy community – particularly the National Fragile X Foundation – whose leadership and dedication help ensure that scientific progress leads to meaningful change for individuals and families affected by Fragile X–associated conditions.
