Autism spectrum disorder (ASD) is known to be highly influenced by genetics. Having a parent or a sibling on the autism spectrum significantly increases one’s likelihood of being diagnosed with ASD.
It has been estimated that approximately 1,000 genes contribute to ASD susceptibility, but only a small minority of these genes have been discovered to date. Nonetheless, never have we been better poised to make rapid progress in understanding the genomic architecture of ASD. New techniques for collecting and analyzing large samples of genetic data from patients enable gene discovery that will lead to new diagnostic approaches and more effective treatments.
Through CHOP and Penn’s extensive biorepository, the genome-wide association study (GWAS), and the Simons Foundation’s SPARK study, CAR researchers are rapidly identifying gene variants (alleles) that are commonly found in autism, and we are working to link them with specific biological and behavioral traits of ASD. The knowledge gained through these studies brings us nearer to developing a precision medicine model of treatment for ASD, enabling our patients and their families to be at the cutting edge of treatment advances.
The Genetics and Biology of Autism
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