Matt Hurles appointed as new Head of Human Genetics Programme
On Tuesday 7 March Dr Matt Hurles accepted the permanent position of Head of the Human Genetics Programme. Dr Hurles joined the Sanger Institute in 2003 as a member of Faculty to pursue his interest in understanding the genetic causes underlying severe developmental disorders, and understanding how DNA mutations arise as it is passed from generation to generation.
"Matt Hurles' insight, experience and wide-ranging research successes make him an ideal person to lead the Human Genetics programme, and the feedback from fellow faculty members, the Institute’s Scientific Advisory Board, and external reviewers is in enthusiastic agreement. I am excited that Matt will be joining the Board of Management, helping guide the Institute, and building on the great work of the Programme’s previous head, Inês Barroso."
Professor Sir Mike Stratton, Director of the Wellcome Trust Sanger Institute
Dr Hurles' research has revealed new insights into the contribution of deletions and duplications of segments of DNA to rare and common disease, the factors influencing the number of new mutations that arise in each generation, the development of novel algorithms for detecting genetic variation, and the delineation of the genetic causes of severe developmental disorders, including neurodevelopmental conditions and congenital heart defects.
In particular he leads the Deciphering Developmental Disorders (DDD) Study, a collaboration involving 14,000 families with children with severe, undiagnosed developmental disorders, all 24 clinical genetic centres in the UK and Ireland, and the Institute. This work has already helped provide families with diagnoses and identify previously unknown genetic conditions. In the future it is hoped that applying this knowledge will help to improve diagnostic testing.
Dr Hurles also leads 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 Institute. The study explores the genetic causes of developmental anomalies that come to light during prenatal ultrasound screening, with the aim of improving the prognostic information that can be provided to parents.
Dr Hurles' highly collaborative research has had increasing translational impact, producing genetic diagnoses for more than a thousand children with previously undiagnosed developmental disorders. As a result of this work, and to guide the development of clinically appliable services, Dr Hurles helped to co-found Congenica Ltd, a start-up company that seeks to provide sustainable genetic analysis services to the NHS and other healthcare providers. The company's software is being used by Genomics England Limited to supply analysis of patients' DNA sequenced as part the UK 100,000 Genomes Project.