Family-Wide Impacts of Genetics: The Case of Fragile X

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 very 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. This presentation will include an overview of this fascinating but little-known group of conditions and case examples of affected families, and will raise bioethical questions about screening for FMR1 mutations in the general population.