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Prosem Lecture: The FMR1 gene: Genotype-Phenotype Studies

February 1 @ 12:00 pm - 1:00 pm

Presenter: Nell Maltman, Ph.D., Postdoctoral Fellow Waisman Center, UW-Madison
Topic: The FMR1 gene: Genotype-Phenotype Studies

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 premature ovarian failure, 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 cognition and language, and 2) examine how aspects of language (i.e., dysfluencies) predict later clinical symptoms associated with a neurodegenerative disorder. Findings from these studies suggest that FMR1 variation and environmental factors (i.e., stress) influence cognition, and that language fluency may be a potential preclinical marker of FMR1-associated neurodegeneration. Future directio ns and implications are discussed.

Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health under Award Number T32HD007489 (PI: Hartley), R01 HD082110 (PI: Mailick), and U54 HD090256 and the University of Wisconsin-Madison.

Learn more about Prosem.

Zoom video recording available for 21 days after the live event.

Please contact Rhonda Jacobs to get Zoom meeting details for this live event.


February 1
12:00 pm - 1:00 pm
Event Category:


Online: Zoom