At the Seaver Autism Center for Research and Treatment, our researchers work to increase knowledge about the symptoms, biology, and treatment of autism spectrum disorder. Studies of etiological and therapeutic approaches depend on the participation of dedicated families and individuals affected by autism.
Our understanding of the genetic basis of autism and related conditions continues to improve. Through large genetic consortia, including the Autism Sequencing Consortium which was co-founded and is co-lead by Joseph D. Buxbaum, PhD, we have identified several new causal genetic loci underlying specific cases of autism. That means autism can have multiple independent causes and, in certain cases, the cause is largely attributed to a specific etiological event. This perspective, called the "multiple rare variant hypothesis," raises both great challenges and great opportunities. One challenge is that this complexity may necessitate studying and/or treating different forms of autism differently.
The benefits of identifying these rare causal variants is that it becomes much more straightforward to give an etiological diagnosis for a given case of autism, we have more predictive power regarding risk, and model systems can be developed for aspects of autism, which allow us to consider novel targeted therapeutic approaches.
Why Participate in Research?
At the Seaver Autism Center for Research and Treatment, our researchers work to increase knowledge about the symptoms, biology, and treatment of autism spectrum disorder. Studies of etiological and therapeutic approaches depend on the participation of dedicated families and individuals affected by autism. Anyone participating in a research study is evaluated by our multidisciplinary team and may receive no-cost “gold standard” diagnostic testing (e.g., Autism Diagnostic Observation Schedule, Second Edition, and Autism Diagnostic Interview-Revised), cognitive evaluation, assessment of adaptive functioning, and genetic testing. Assessment results are compiled into a comprehensive report for families and include specific treatment and educational recommendations that can be used to obtain services.