Genetics and Genomics | Icahn School of Medicine

SEAVER AUTISM CENTER FOR RESEARCH AND TREATMENT

Genetics, Genomics, and Big Data Analytics

The genetics, genomics, and big data analytics team at the Seaver Autism Center for Research and Treatment is dedicated to unraveling the genetic intricacies of autism spectrum disorder. As one of the largest autism genomics research centers in the world, we have been able to eliminate many “external” causes of autism and provide a clear path forward in identifying the specific genes that contribute to autism. Through our international, collaborative research, we have discovered more than 200 genes strongly related to autism diagnosis. Today, we can identify an underlying genetic condition in 30 percent of patients with profound autism, marking a significant advancement in our understanding and diagnostic capabilities.

Our director, Joseph D. Buxbaum, PhD, MSc, has been instrumental in propelling autism genetics research to new heights. He co-founded the Autism Sequencing Consortium, a massive international initiative that surveys all 20,000 genes in the human genome to identify those associated with autism. This collaborative effort has been continuously funded since its inception and has published multiple papers identifying and characterizing autism genes. Through the Consortium, our team leads the largest genetic sequencing study of autism spectrum disorder, identifying hundreds of genes associated with autism risk, significantly advancing our ability to distinguish autism-related genes from those associated with intellectual disability and developmental delay. The most recent study, with more than 150,000 participants, identified more than 70 genes very strongly associated with autism and over 250 genes with strong links to neurodevelopmental conditions.

As we push the boundaries of genetic research, our focus extends beyond gene discovery to understanding the complex interactions between autism genes and their shared biochemical pathways. We are utilizing cutting-edge techniques such as CRISPR and proteomic approaches to map the shared pathways impacted by diverse autism genes. In a collaborative study, we disrupted 14 high-confidence autism risk genes and conducted multi-omic analyses in the mouse brain, providing new avenues to prioritize genetic risk for autism and uncovering shared cellular functions and genetic interactions that contribute to the condition. We have also disrupted 60 autism genes using CRISPR to understand their role in human-brain development. Finally, our research labs collaborate to study specific genetic disorders from multiple perspectives, embracing a precision therapeutics approach. This multifaceted strategy not only deepens our understanding of autism's genetic underpinnings but also paves the way for developing more targeted and effective treatments, bringing us closer to understanding, treating, and potentially curing genetic diseases associated with autism.