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Mapping the language of fragile X

Breakthrough Star Jessica Klusek looks at communication difficulties among carriers of genetic mutation

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Jessica Klusek’s work focuses on communication difficulties associated with the FMR1 premutation — the genetic mutation found in women who are carriers of fragile X syndrome. Fragile X syndrome is the most common genetic cause of intellectual disability and autism.

Research breakthroughs. It was once believed that mothers who carried the fragile X premutation had no symptoms and that their only clinical risk was the potential to pass the disorder to their children. Klusek’s pre-dissertation project was the first study to document pragmatic language difficulties in FMR1 premutation carriers. Since then, she has also found evidence of differences in use and processing of eye gaze.

Why it matters. Klusek’s research gives a clearer picture of the challenges carriers face. Mothers of fragile X children are at risk for a range of mental, cognitive and physical health problems, all of which can be exacerbated by caregiver stress.

Garnering grants. Since being hired in 2016, she has amassed more than $6.8 million in NIH grants as the principal investigator on R01, R21 and R03 awards and site principal investigator/co-investigator on another R01 — putting her in the top 10 percent of NIH-funded principal investigators nationally.

Looking ahead. In the future, she would like to expand her research to explore the experiences of these families as they age. In particular, she wants to know what happens when mothers care for aging children while managing their own worsening symptoms.

“Pursuing this line of research and having the opportunity to interface with this community of amazing women has truly been a privilege. Fragile X moms are tough as nails — they never give up, and they are the biggest advocates for their children and their families. I have often felt inspired by their experiences and have taken away many lessons on parenting, life and science from this group of women.”


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