Autism Spectrum Disorder (ASD) affects roughly 1% of the world's population, and currently there are no mechanism-based treatments that address the core features of ASD. It is now clear that the genetics underlying ASD are complicated; with at least several hundred genes conferring small amounts of risk. More recently, studies have turned to genomic sequencing and found several rare variants in individuals 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. The study of monogenic or syndromic forms of ASD, has been a leading strategy to gain insight into the complex mechanisms of ASD. Fragile X Syndrome (FXS) is one of the most common inherited forms of ASD and intellectual disability. Since the Fragile X gene (FMR1) was cloned in 1991, the field has used cellular assays and model organisms to elucidate the functions of the FMR1 protein (FMRP), the consequences of its loss and identify therapeutic targets for FXS and ASD. Other syndromic forms of ASD, such as tuberous sclerosis complex, Rett Syndrome, Angelman Syndrome and others, are being investigated using similar approaches. Recent technological advances in stem-cell derived neurons, single cell sequencing, gene therapy and novel model organisms are setting the stage for transformative advances in therapeutic development for these neurodevelopmental disorders. This conference will bring together leading basic and translational scientists studying ASD, Fragile X and related neurodevelopmental disorders from around the world with the ultimate goal of developing mechanism-based treatments that address the core features of these diseases.
The conference will consist of nine sessions, on the topics listed below. The conference chair is currently developing their preliminary program, which will include the names of the invited speakers and discussion leaders for each of these sessions. The preliminary program will be available by October 15, 2019. Please check back for updates.
- Keynote Session: From Genes to Drugs in Neurodevelopmental Disorders
- Genetic Heterogeneity
- Convergence of Molecular Mechanisms
- Human Cellular Models
- Circuit Biology in Animal Models
- Human Physiology and Biomarkers
- Interface with the Environment
- New Model Systems and Platforms
- Innovative Approaches to Clinical Outcome Measures and Trial Design