Professor Matthew Hurles

Professor Matthew Hurles is Director of the Wellcome Sanger Institute and leads a research group focused on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed from generation to generation.

He is dedicated to applying new genetic technologies to improve the diagnosis of patients with rare genetic conditions. He lead the Deciphering Developmental Disorders (DDD) Study (https://www.ddduk.org), a collaboration between 14,000 families with children with severe, undiagnosed developmental disorders, all 24 clinical genetic centres in the UK and Ireland, and the Wellcome Sanger Institute. Together they are understanding the diverse genetic landscape of these disorders, and applying this knowledge to achieve improved diagnostic testing.

He also leads the Prenatal Assessment of Genomes and Exomes (PAGE) Study (https://www.pageuk.org), a collaboration between pregnant mothers and their partners, a network of UK Fetal Medicine Centres caring for these pregnant women and the Wellcome Sanger Institute, with the aim of improving the prognostic information that can be provided to parents.

Finally, Professor Hurles leads the DECIPHER initiative (https://www.deciphergenomics.org/) with Helen Firth, which is enabling rare disease patients to share anonymised genetic and clinical data globally.