Autism Spectrum Disorder Research

Autism spectrum disorder (ASD) is defined in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) by a set of behavioral traits in the domains of social communication and social interaction, as well as restricted and repetitive patterns of behavior and interests. In addition to those defining features, many individuals with autism also have accompanying issues in the domains of attention, executive functioning, anxiety, and sleep / circadian rhythms. The Autism Spectrum Program of Excellence (ASPE) at the University of Pennsylvania uses genetics and neuroscience studies to study these traits to further understand biological processes in autism. With guidance from our Advisory Board of autistic individuals, family members, and leading scientists and clinicians, the ASPE team intends to use our findings to inform support programs, develop treatments that improve the quality of life for autistic individuals, increase acceptance and advocacy, and build an inclusive support network in the community. 

It has been established that autism has a strong genetic basis. Unlike most previous autism genetics studies, the University of Pennsylvania ASPE Program is focusing on recruiting individuals with autism without intellectual disability, which continues to lead to new insights into the genomics and biology of the entire autism spectrum. These insights ultimately help us in developing improved diagnosis and treatments and improve the quality of life of autistic individuals and their families. 

Additionally, the University of Pennsylvania ASPE Programis recruiting individuals with NRXN1 gene variants (also known as 2p16.3 variants such as deletions). For more information on our neurexin research and recruitment, see our Neurexin Research Page. 

Recruitment Summary: ASPE is recruiting individuals with an autism diagnosis and/or NRXN1 gene deletion, their family members, and any person without an autism diagnosis in the community. We welcome all inquiries regarding research eligibility.