Fragile X syndrome: a frequent hereditary form of Intellectual Disability

The fragile X syndrome is a frequent form of hereditary intellectual disability and autism. The gene was discovered in 1991 and since it has become a model  how fundamental research can contribute to patient care for many other neurodevelopmental disorders.

While we have been active in many areas of fragile X research, our focus has initially been on the characterisation of the mouse model for the disorder. Over the last years, we have followed up on our discovery that the GABAergic system is compromised in the fragile X syndrome. Our efforts have accumulated in the initiation of clinical trials both in the USA and at our site.

To facilitate current and future efforts we have created a translational fragile X network, uniting many European fragile X researchers. We are also working on the identification of novel biomarkers for potential future use in clinical trials.

Fragile X syndrome