Dr. Marsha R. Mailick, PhD, will discuss mutations in a single gene—FMR1—on the X chromosome are passed from parent to child across multiple generations and eventually become severe enough to result in a range of childhood and adult-onset conditions, including significant intellectual disability, premature menopause, and Parkinson’s-like symptoms. Instability in this gene is common, affecting as many as 1 in 13 women and 1 in 23 men, but only a small proportion have clinical impairments or have been properly diagnosed. In this presentation, Dr. Mailick will include an overview of this fascinating yet little-known group of conditions and case examples of affected families. She will also raise bio-ethical questions about screening for FMR1 mutations in the general population.
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