Advancement of knowledge about families who have a member with an intellectual and developmental disabilities

FXS & FMR1-Associated Conditions

Family Adaptation to Fragile X Syndrome
The goal of this research is to understand how families are affected by variations in the FMR1 gene. The full mutation of this gene causes FXS, and we have been studying families of 140 adolescents and adults with FXS since 2008. We also study the premutation of the FMR1 gene, and our research includes over 200 female premutation carriers and their families. By using longitudinal methods and full-family analyses we seek to gain an understanding of family adaptation of FXS and FRM1 variations.

More recently, we have begun to investigate the full range of CGG repeats on the FMR1 gene, from low numbers of repeats through expansions, to learn about how this variation contributes to well-being.

 

Young woman

Journal Articles