Our PhD candidate, Thomas Christensen has been selected as one of two Graduate Student Scholars in Aging by the Office for the Study of Aging at the University of South Carolina. As part of this award, he will receive a $1,000 grant to support his research on motor speech in women with the FMR1 premutation and its relationship… Read more »
Dr. Jessica Klusek, along with co-authors Gierman, Fairchild, Benitez, Berry-Kravis, and Mailick, published a new research article in the Journal of Alzheimer’s Disease titled: “Cognitive dysfunction in women with the FMR1 premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education.” Women with the FMR1 premutation are known to have a higher… Read more »
Thanks to funding from the NIH P50 Fragile X Center Award, we are pleased to announce that our study of women with the FMR1 premutation has been extended for an additional three years, and we are also recruiting new participants. We are currently seeking participants from the following groups: What does participation involve?Participants will complete one to two days… Read more »
You may have noticed that the SC Family Study Lab was recently featured in a National Fragile X Foundation (NFXF) article highlighting one of our committed research participants, Laurie. In “Meet Laurie, a mother of two, who also lives with the Fragile X premutation”, Laurie shares her experience of the growing clinical recognition of Fragile… Read more »
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 »