Matthew Hurles

Professor Matthew Hurles serves as Director of the Wellcome Sanger Institute and leads the Hurles Research Group focused on genomic mutation and genetic disease. He holds the position of Honorary Professor of Human Genetics and Genomics at the University of Cambridge and has established himself as a leading figure in human genomics research through his extensive contributions to understanding genetic variation and developmental disorders.

His research interests center on human genetic variation, its clinical impact, and the underlying mutational processes that generate this diversity. Professor Hurles is particularly fascinated by how DNA mutates as it is passed between generations and how this knowledge can be applied to improve diagnosis for patients with rare genetic conditions. His work spans developmental disorders, prenatal genetics, and genomic medicine, with the goal of understanding genetic causes of disorders and their biological mechanisms to advance human health.

Analysis of his publication record reveals a consistent trajectory of innovation in genomic technologies and methodologies. His most recent work shows increasing emphasis on functional genomics approaches like saturation genome editing, analysis of diverse populations to understand genetic architecture across ethnic groups, and the clinical translation of genomic findings. There is a clear progression from basic discovery of genetic variants to developing methods for variant interpretation and clinical application.

• Fellow of the Royal Society (FRS)
• Fellow of the UK Academy of Medical Sciences (FMedSci)
• European Society of Human Genetics Award
• Crick Lecture from the Royal Society
• Balfour Lecture from the Genetics Society

Professor Hurles leads several major collaborative research initiatives including the Deciphering Developmental Disorders (DDD) Study involving 14,000 families, the Prenatal Assessment of Genomes and Exomes (PAGE) Study, and the DECIPHER initiative for global data sharing. His research has directly led to genetic diagnoses for over a thousand children with previously undiagnosed developmental disorders and contributed to the founding of Congenica Ltd, which provides genetic diagnostic services to the NHS. He has secured substantial research funding through these large-scale collaborative projects.

As Director of the Wellcome Sanger Institute, Professor Hurles oversees one of the world's premier genomic research institutions. His leadership extends to global collaborations through DECIPHER, which enables rare disease patients to share anonymized genetic and clinical data worldwide. His research group applies cutting-edge technologies to model genetic disorders, with particular focus on developing experimental models to characterize disorder biology and identify therapeutic opportunities.