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… Read more »
We’re excited to share that our team recently presented three research talks at the 6th International Conference on Fragile X Premutation Associated Conditions: From Clinical and Molecular Diagnosis to Treatment, held September 8–11 at Hotel Covo dei Saraceni in Polignano a Mare, Italy. Our PhD student, Thomas Christensen, presented on “Word Finding in Women with the FMR1… Read more »
Most past research on mothers of children with FXS has focused on those with the FMR1 premutation (55–200 CGG repeats). This new study is one of the first to focus specifically on mothers with the full mutation (200+ CGG repeats). This project is funded by the Carolina Autism and Neurodevelopment (CAN) Research Center, with support from Dr. Lauren Jenner,… Read more »
We’re excited to share that Wesley Kephart, one of our graduate students, presented his poster, “Acoustic Measures of Vocal Quality as Early Biomarkers of Disease Progression in Women with the FMR1 Premutation,” at the 2025 Fall Voice Conference, held in Charlotte, NC, from September 25–27. Wesley’s project provides valuable insight into how reduced vocal quality… Read more »
Dr. Jessica Klusek and Dr. Laura Friedman has published a new article in the Journal of Neurolinguistics titled “Semantic and syntactic language differences associated with the FMR1 premutation genotype.” A subgroup of women with the FMR1 premutation produce language differences. This study examined language skills of 109 women the FMR1 premutation and 109 women without the FMR1 premutation. Women completed tasks where they… Read more »
We are excited to share that Dr. Jessica Klusek, together with co-author Dr. Lauren Jenner, has published a new paper in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics titled: “Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age”. Women… Read more »
On Tuesday, July 22, 2025, National Fragile X Advocacy Day was held at the South Carolina Statehouse, where we heard from speakers including USC researchers, Dr. Jessica Klusek and Dr. Jane Roberts, the Greenwood Genetics Center, and members of the Fragile X community. We learned and heard stories from these speakers to raise awareness about… Read more »
Congrats to Wesley Kephart, one of our graduate students, as his abstract “Acoustic Measures of Vocal Quality as Early Biomarkers of Disease Progression in Women with the FMR1 Premutation” got accepted for a poster presentation at the 2025 Fall Voice Conference, taking place in Charlotte, NC from September 25-27th. Thank you Wesley, for all of… Read more »
Join us, along with families, self-advocates, state officials, and other researchers to celebrate Fragile X Awareness Day! This event will be at the South Carolina Statehouse Lobby on Tuesday, July 22, 2025 from 10:30-12:00. Check out the graphic for more information! We hope to see you there!
On April 25, 2025, three of our undergradutes presented their hard work and studies at the annual poster conference, DiscoverUSC, held at the University of South Carolina! Our proud presenters worked hard and diligently on their studies, collaborating with their mentors, and shared their work to reviewers, friends, families, and other vistors throughout the day!… Read more »