NFXF Blog

Meet Jill and her family, whose multi-generational Fragile X story highlights the importance of research, testing, and hope. Learn how new FXTAS clinical trial readiness efforts are paving the way for future treatments.

We’re thrilled to spotlight a major new review article recently published in the New England Journal of Medicine (NEJM) – The Spectrum of Fragile X Disorders by Randi J. Hagerman and Paul J. Hagerman.

FXTAS was first described in five grandfathers of children with Fragile X syndrome in 2001 by Dr. Randi Hagerman and her colleagues.

Valuable resources to share with your care team or anyone seeking a better understanding of the genetics of Fragile X, including the Fragile X premutation, and answer questions about genetic testing and genetic counseling.

Highlighting the Fragile X Syndrome Multi-Disciplinary Clinic at the University of Michigan Health, a member of the National Fragile X Foundation’s Fragile X Clinical & Research Consortium (FXCRC).

In 2006, there were 11 medical institutions in the country with doctors and other specialists focusing on Fragile X syndrome. Today, there are more than 30 Fragile X clinics.

Research Summary: This research was very revealing. Currently, we do not have accurate methods to predict who will develop FXTAS and who will not, or when the disease will start.

The Fragile X Program provides services and referrals for children and young adults with FXS and FXD, including FXTAS and FXPOI.

An interdisciplinary staff and faculty includes specialists in pediatrics, molecular genetics, psychiatry, psychology, neurology, neurobiology, pathology, and social work.