Jessica Klusek, an assistant professor in the Department of Communication Sciences and Disorders at the University of South Carolina Arnold School of Public Health, has been awarded $149,000 from the National Institutes of Health’s Eunice Kennedy Shriver National Institute of Child Health & Human Development. She will use the two-year grant to examine aging language trajectories for women who are carriers of the FMR1 premutation.
The FMR1 premutation was once only recognized by the medical community through its association with fragile X syndrome — a neurodevelopmental disorder that represents the most common cause of inherited disability and the most common genetic cause of autism spectrum disorder. Women who are carriers of the FMR1 premutation can pass the abnormal gene to their sons and daughters, which may cause fragile X syndrome. Dr. Klusek is already studying the impact of fragile X syndrome on the communication skills of those who have it and/or autism. With this new grant, she will shift her focus to better understand communication features associated with the FMR1 premutation genotype itself.
Dr. Klusek was recently awarded an Early Career Award from the National Institute on Deafness and Other Communication Disorders to better understand the communication and language features associated with the FMR1 premutation. While women (and men) were previously believed to be silent carriers of the FMR1 premutation with no clinical side effects for themselves, researchers and clinicians now know that being a carrier of this particular gene mutation is associated with a range of mental, cognitive and physical health risks — thus, prompting Dr. Klusek’s investigation into how carriers’ communication abilities are impacted by the premutation.Friday Letter Submission, Publish on August 30