Ryan Doan’s research is focused on the important issue of understanding why many individuals with neurodevelopmental disorders lack a genetic diagnosis, both in clinical and research settings. The overall aim of his laboratory is to develop and implement a streamlined approach combining evolutionary and human genetics to discover novel noncoding mutations that can be targeted in a clinical diagnostic setting.
This approach relies on two major sources of genetic data to evaluate the constraints and impact of specific genes and elements: 1) large-scale genome and exome sequencing data from autism families and 2) targeted sequencing in families with neurodevelopmental disorders.
Doan’s team collaborates with the Autism Sequencing Consortium (ASC) and the SPARK consortium to perform large-scale analyses of inherited coding and noncoding mutations. His group also develops novel sequencing and functional assays for targeted sequencing, genotype validation and functional screening of somatic and germline coding and regulatory mutations. The functional assays include epigenomic sequencing approaches (i.e., chromatin interaction sequencing), promoter and enhancer screening, and splicing assays. Together, these approaches aim to provide novel insights into the genetics of neurodevelopmental disorders that will improve clinical genetic screening for families.