Prosem Lecture: Language, Cognition, and the FMR1 Gene: Implications Across the Lifespan

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62 Goodnight Hall
@ 12:00 pm - 1:00 pm
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Nell Maltman, Ph.D.
Assistant Research Scientist
Waisman Center, UW-Madison

Language, Cognition, and the FMR1 Gene: Implications Across the Lifespan

The FMR1 gene is essential for healthy neural development, and variation in the gene impacts a range of physical, cognitive, and language processes. FMR1 expansions (>200 CGG repeats) cause fragile X syndrome, the most common inherited cause of autism and intellectual disability. Smaller expansions, known as the premutation (>55 CGG repeats), can cause a neurodegenerative disorder (FXTAS), and a range of clinical and subclinical differences in language, cognition, and mental health. The premutation expansion occurs in ~1 in 150 females and ~1 in 470 males, so understanding the relationships between genetic and phenotypic expression is vital from a public health perspective. The goal of this presentation is to 1) explore how FMR1-related variation influences language and cognition across the lifespan, and 2) examine how aspects of language relate to clinical symptoms associated with both neurodevelopmental and neurodegenerative conditions. Findings from these studies suggest that FMR1 variation and clinical factors influence language production, particularly language fluency, and cognition across the lifespan.  Future directions and implications are discussed.

Funding: R21 DC020257 (PI: Maltman), R01 DC019092 (PI: Sterling), R01 HD082110 (PI: Mailick), T32 HD007489 (PI: Hartley), U54 HD090256 (PI: Chang), Baldwin Seed Grant (Sterling, Maltman, Lorang), R03 DC011616 (PI: Sterling), 1K23DC016639-01 (PI: Sterling), UW-Madison Waisman Center

Learn more about Prosem.