The enigma of autism: Currently, most of the work in our lab is focused on autism research. Autism is the most severe end of a group of neurodevelopmental disorders referred to as autism spectrum disorders (ASDs). ASD is a heterogeneous genetic syndrome characterized by social deficits, language impairments and repetitive behaviors. Though extensively characterized clinically, autism pathogenesis remains a mystery. It is known that autism has strong genetic basis; yet little is known about the specific genetic factors that contribute to the disease risk. There is growing evidence that rare and new mutations contribute to a large proportion of cases, but the few known genes account for only a very small fraction of cases. This implies that the disease can be triggered by mutations in many different genes, and may also explain why it is so difficult to identify the deleterious mutations. In addition, it may explain why no unifying structural or neuropathological features have been conclusively identified. This genetic heterogeneity also poses a big challenge for finding treatments for the disease.
Our current research aims at addressing these challenges. We are currently developing and using new functional genomics technologies and cell biology approaches to uncover neurogenetic pathways and mechanisms involved in autism. These approaches aim at identifying genetic variants that effect gene function or regulation and studying the connection between genetic variations and neurodevelopmental diseases. In order to meet this aim, we are currently collaborating with several scientists from the fields of neuroscience, psychology, molecular biology, and statistical genetics. We hope that these joint efforts will result in the generation of an integrated view of the biology of autism. In addition, we are attempting to move away from studies of single genes to models of multiple susceptibility loci using, for example, assays of whole genome expression to study the perturbations in the system caused by mutations in different genes and pathways. We are hoping eventually to understand how the different perturbations impact the neural circuitry and lead to cognitive and social deficits, which are common to individuals with autism.
We are also part of the Autism Center at the Hebrew University.