The Perelman School of Medicine at the University of Pennsylvania has announced a $5.4 million gift from an anonymous donor to establish a research program focused on Asperger syndrome (AS).

Aimed at advancing understanding of the genetic causes of AS, the Asperger Syndrome Program of Excellence (ASPE) will provide funds for research by new faculty, postdoctoral fellows, and graduate students. Among other activities, the program will support a pioneering family-based genetic study while simultaneously investigating specific mutations in genes found in earlier genome-wide studies associated with AS and ASD.

A major focus of the program will be the NRXN1 gene, which codes for the protein neurexin 1 and has been associated with ASD and other psychiatric and neurodevelopmental disorders. The ASPE team will compare the genomes of individuals with and without mutations in the NRXN1 gene with those of individuals with AS and family members who may or may not have been diagnosed with AS, and use model systems to study how mutations in the gene as well as newly discovered genes affect the biology and function of the brain in those with Asperger's. Penn will host an international symposium for ASPE in the spring of 2018 to review early findings and stimulate new research avenues.

"While most genetic studies of ASD have focused on more severely affected individuals with intellectual disability, the efforts of our program will be one of the first large-scale genetic studies to recruit individuals with Asperger syndrome and their family members, including family members with AS, ASD, or without either diagnosis," said ASPE co-director Edward Brodkin, an associate professor of psychiatry at the Perelman School and director of the Adult Autism Spectrum Program at Penn. "This approach holds promise for revealing as-yet-undiscovered genetic mechanisms that may be involved in both AS and ASD, as a whole."