Dr Matthew Hurles 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.

Matthew is fascinated by human genetic variation, its clinical impact, its underlying mutational origins and its potential to illuminate human prehistory.

Matthew is dedicated to applying new genetic technologies to improve the diagnosis of patients with rare genetic conditions. He believes that understanding the genetic causes of these disorders, and their underlying biological mechanisms, will give us fundamental insights into human development.

Matthew led the Deciphering Developmental Disorders (DDD) Study, 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. His focus is bringing people together to understand the diverse genetic landscape of these disorders, and applying this knowledge to achieve improved diagnostic testing.

Matthew also led the Prenatal Assessment of Genomes and Exomes (PAGE) Study, 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, which investigated the genetic causes of developmental anomalies that are identified during prenatal ultrasound screening, with the aim of improving the prognostic information that can be provided to parents.

The work of Matthew’s research group has been characterised by rapid adoption of new technologies for assaying genetic variation, development of novel analytical strategies for making sense of large datasets and thoughtful application of these tools for advancing our understanding of human genetic diseases. More recently, the group’s highly collaborative research has had increasing translational impact, resulting in genetic diagnoses for over a thousand children with previously undiagnosed developmental disorders, and leading to the founding of a start-up company (Congenica Ltd) to provide sustainable genetic diagnostic services to the NHS and other healthcare providers.

Matthew believes we have a moral imperative to give patients and their families the opportunity to share their genetic data anonymously, to enable them to benefit from having the greatest possible number of researchers and clinicians analysing their data. Together with Helen Firth, Matthew led the DECIPHER initiative that is enabling rare disease patients to share anonymised genetic and clinical data globally.

Matthew’s group is applying the latest technologies to edit the DNA of cells and model organisms to develop experimental models of newly identified genetic disorders that enable characterisation of the biology of the disorder, and the identification of opportunities for developing therapies.