Matthew Hurles is Senior Group Leader of Human Genetics at Wellcome Trust Sanger Institute. He is known for his innovation within the field of population and human genomics, allowing him to be one of the first truly population genomic researchers of this century. His work to characterise structural variation in the human genome paved the way for his leadership on the Deciphering Developmental Disorders study looking for germline mutations in more than 12,000 children with undiagnosed developmental disorders. This study was the proof of principle study for the rare diseases component of the Genomics England programme.