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.

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

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

The work of my research group has been characterized by rapid adoption of new technologies for assaying genetic variation, development of novel analytical strategies for making sense from large datasets and thoughtful application of these tools for advancing our understanding of human genetic diseases. More recently, our 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.