What Can Genetics Tell Us About Autism Spectrum Disorder?

It has been known that autism spectrum disorder is primarily caused by genetic factors for several decades. The past 10 years have seen great progress in finding some of the genes responsible and in building a map of what other types of genetic variants may contribute. These findings have been used both to provide insight into the biology of autism and, in the clinic, to identify individuals with specific genetic variants.

In this lecture, Stephan Sanders presented an update on the current state of genetics research in autism, highlight some of the key findings that remain to be discovered, and discussing how these findings could ultimately benefit individuals with autism and their families.

Stephan Sanders trained as a pediatric physician in the United Kingdom before pursuing a research career in genomics and bioinformatics. His work has helped characterize the role of de novo mutations in the etiology of autism and identified multiple autism risk loci, including duplications of the 7q11.23 Williams syndrome region (Sanders et al. Neuron 2011) and mutations in the sodium channel gene SCN2A (Sanders et al. Nature 2012). His work on the integration of copy number variation and exome data across multiple autism cohorts recently identified 71 autism risk loci (Sanders et al. Neuron 2015). In addition, he worked as part of a group that integrated spatiotemporal gene expression data from the human brain with these autism-associated genes (Willsey et al. Cell 2013). This approach has implicated deep-layer glutamatergic neurons in the frontal cortex during mid-fetal development in the causation of autism. His lab has three main research aims: 1) Understanding the genetic basis of childhood neurodevelopmental conditions, in particular autism; 2) Understanding how these genetic factors lead to the conditions; and 3) Understanding the mechanism that leads to the male bias in autism diagnosis, in particular through identifying the biological basis of the female protective effect.