Convergence and Divergence Between Fragile X and Autism Spectrum Disorders

Autism Spectrum Disorder (ASD) affect approximately 1% of the world’s population. There are currently no mechanism-based therapies. Advances in genome sequencing techniques have identified genetic causes of ASD in approximately 20% of people with ASD. These studies suggest a high degree of convergence on particular cellular processes and biochemical pathways, suggesting there may be convergence of underlying mechanisms and potential therapeutic strategies. Fragile X syndrome (FXS) is one of the most common inherited forms of ASD and intellectual disability, affecting approximately 1 in 4,000 males and 1 in 6,000 females. ASD occurs in up to 2/3 of males and 1/3 of females with FXS. Since the Fragile X gene (FMR1) was cloned in 1991, a large field has grown with more than a hundred labs using techniques from biochemistry through genetics to model organisms to elucidate the functions of the FMR1 protein (FMRP) and the consequences of its loss. As such, studies on FXS have served as a baseline for which to directly examine whether convergence of molecular pathology revealed by genetic studies reflects convergence in biochemical pathways, cellular and circuit function, behavior and ultimately treatment.

This conference will bring together leading scientists and clinicians studying Fragile X and other genetic causes of ASD with the ultimate goal of identifying the molecular, cellular and circuit mechanisms that underlie the heterogenous symptomatology associated with these disorders and identify the best potential pathways for translating this knowledge through to successful clinical trials.