Stephan Sanders, PhD

Assistant Professor

Genomic and bioinformatic approaches to discovering the etiology of neurodevelopmental disorders in humans, especially autism spectrum disorder

Dr Sanders trained as a pediatric physician at Nottingham and London in the UK before undertaking a PhD and postdoctoral research position at Yale. His research focuses on using genomics and bioinformatics to understand the etiology of human disease, especially autism spectrum disorder (ASD). 

Using SNP genotyping arrays on samples in the Simons Simplex Collection he clarified the important role of de novo copy number variation (CNVs) in ASD including the discovery of duplications at 7q11.23, of note since deletions at this same locus cause Williams-Beuren syndrome which is associated with increased sociability. In the same sample cohort he used exome sequencing to show that de novo loss of function (LoF) mutations are associated with ASD and to establish a statistical framework for identifying the specific genes involved in ASD pathology based on these de novo events. This statistical method was used to identify the gene SCN2A and has since identified multiple ASD genes with high confidence.

Most recently recently he has worked with a group of collaborators to investigate what these ASD genes can tell us about ASD neuropathology. By integrating spatiotemporal gene expression data from the human brain (BrainSpan) and the results of exome sequencing they built and interrogated spatiotemporal co-expression networks to identify points of convergence in gene expression. This approach has highlighted the role of layer 5/6 glutamatergic neurons in the frontal cortex in mid-fetal development in the causation of ASD.

Current Projects

Whole genome sequencing of autism spectrum disorder (ASD) families
Discovery of sexually dimorphic features that could explain the female protective effect in ASD
Gene discovery in ASD
Functional analysis of SCN2A mutations in ASD

Lab Members

Joon An
Shan Dong
Clif Duhn
Michael Gilson
Sindy Law
Grace Schwartz
Donna Werling

Lab Website