The Perelman School of Medicine at the University of Pennsylvania established ASPE, the Autism Spectrum Program of Excellence, in 2017 to improve the quality of life for autistic individuals and their families through research.

A major focus of ASPE is on the NRXN1 gene (2p16.3 deletion), which codes for the protein neurexin 1, and has been associated with autism and other psychiatric and neurodevelopmental disorders.

Deletions of the region of chromosome 2 where NRXN1 is located, termed 2p16.3 deletions, are associated with autism and a number of other neuropsychiatric disorders and conditions, but they can also be found in unaffected individuals. While it is known that neurexin 1 is important for synapse function, how neurexin 1 deletions contribute to autism or other disorders and conditions is not well understood. One of the major goals of the University of Pennsylvania ASPE Program is to clarify the ways that different variants of the NRXN1 gene affect the brain and autism.

To reach that goal, the ASPE Program is recruiting all individuals with a NRXN1 variant or 2p16.3 copy number variant (e.g. deletion) and their families. This includes those with and without an autism diagnosis, and individuals both with and without intellectual disability. Additionally, ASPE is recruiting individuals who have or may have a diagnosis of autism spectrum disorder, as well as a comparison group consisting of individuals with no history of clinical or self-diagnosis of autism. We welcome all inquiries regarding research eligibility.

ASPE is working to translate this biological research into improved treatments, services, and support programs, as well as increased acceptance and advocacy for individuals on the spectrum. Join our study today!