Dr. Vincent’s research is focused on providing a better understanding of the genetics and molecular pathways involved with autism and other developmental and intellectual disability disorders, such as Rett syndrome. His work includes genetic mapping for autism on the X-chromosome, including studies of a type of mutation called copy number variants. This work has identified a number of genes that are associated with autism, including the PTCHD1 gene. In addition, he was involved in the discovery of a new variant of the Rett syndrome gene. This finding sparked the discovery of disease-causing mutations for a number of Rett syndrome patients, for whom no mutation could previously be found. Dr. Vincent’s studies have also recently discovered several new genes involved in intellectual disability. This work was done by mapping regions at risk in affected families from Pakistan, where marriage between cousins is common and multiple family members can be affected. The discoveries include new genes for Joubert syndrome, CC2D2A and TCTN2, and 36 other new genes for intellectual disability, including TRAPPC9, for the majority of which the inheritance pattern is autosomal recessive (meaning two faulty copies of the gene are inherited, one from the mother and one from the father). Dr Vincent’s current work is also using next-generation sequencing to identify genes involved in autism. He is also involved in a study searching for genes related to bipolar affective disorder.