Dr Matt Hurles elected to the Academy of Medical Sciences
Head of the Human Genetics Programme recognised with prestigious Fellowship
Dr Matt Hurles, Head of the Human Genetics Programme at the Wellcome Trust Sanger Institute is one of 46 world-leading scientists being honoured for their outstanding contribution to medical science by the Academy of Medical Sciences. Matt joins more than 1,100 existing Fellows whose innovative research has advanced understanding of health and disease and has been translated into benefits for society.
“As we elect new Fellows each year, the Academy continues to grow as a unique and productive hub of the best minds in UK medical science. Our expanding and evolving Fellowship allows the Academy to play a vital role in tackling the major health challenges facing society today and in the future.
“The election of these 46 exceptional biomedical and health researchers is a well-deserved honour. Each newly elected Fellow has made an outstanding impact in the community, contributing to the development of better healthcare – from fundamental scientific understanding to the prevention, diagnosis and treatment of disease. I am delighted to welcome them to the Academy and greatly look forward to working with them all in the future.”
Professor Sir Robert Lechler PMediSci President of The Academy of Medical Sciences
Matt leads the Genomic mutation and genetic disease research group, investigating the genetic causes and biological mechanisms of rare conditions resulting from impaired development. Through his work with DECIPHER (DatabasE of genomiC varIation and Phenotype In Humans using Ensembl Resources) and DDD (Deciphering Developmental Disorders), Matt has helped to develop and prove the use of DNA sequencing to identify and discover genetic changes responsible for developmental issues. So far the DDD study has identified 30 previously unidentified genes that are involved in developmental disorders and has provided information to more than 4,000 families.
The work of DDD and DECIPHER has demonstrated the clinical value of genome sequencing to understand developmental issues and they paved the way for the UK NHS 100,000 Genomes Project. It will read and compare the complete DNA sequences (genomes) of 100,000 people with either cancer or a developmental disorder.
In addition, Matt and his research team explore how people acquire genetic changes before birth that have not been passed down from either the mother or father. By comparing a child’s whole genome DNA sequence with the parents’ genomes, the team discovered that every person receives approximately 60 new changes to their genetic sequence that occurred when the father’s sperm and mother’s egg were produced. These changes are not present in mother or father and, in some instances, these changes may produce a developmental disorder.
For parents whose children have a developmental disorder, knowing whether their child inherited the condition directly from the parents or acquired it spontaneously can be of enormous help when deciding whether or not to try for more children.
Matt 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 Wellcome Trust Sanger Institute. The project aims to identify the genetic causes of developmental anomalies that are identified during prenatal ultrasound screening. The ultimate aim is to improve the prognostic information that is given to parents and provide more informed parental counselling. It is the first large UK-based study (of 1000 families) analysing in detail every single gene in people’s DNA.
“I am delighted to be elected a Fellow of the Academy of Medical Sciences. Genomic science is a collaborative endeavour: from the generous donation of DNA by families and medical insights from clinicians, through the sequencing skills of laboratory scientists to the computational skills of bioinformaticians delivering in-depth analyses. Without the dedication and support of all these groups, the work that I and my team carry out would not be possible. This award recognises the vital contribution that everyone involved makes in developing new diagnostic technologies that provide much-needed answers for families and their doctors.”
Dr Matt Hurles Head of the Human Genetics Programme at the Wellcome Trust Sanger Institute
Matt will be formally admitted to the Academy on 28 June 2017, when he will join seven current members of Sanger Institute Faculty (including Director Professor Sir Mike Stratton, Director Emeritus Professor Allan Bradley and fellow Programme Heads Professor Julian Parkhill and Dr Sarah Teichmann), a further 11 current Associate or Honorary Faculty members and three Alumni who are already Fellows.
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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. Read more of Matt’s Profile
The Hurles Research Group studies the genetic causes and biological mechanisms of rare conditions resulting from impaired development. The team also studies how DNA mutates as it is passed from one generation to the next, and the factors that influence the number and type of mutations that arise. The scientists are a multi-disciplinary group of molecular biologists, bioinformaticians and computational geneticists. Read more about the Hurles Group
DECIPHER is a web-based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants from well-phenotyped patients suffering from rare genetic disorders. DECIPHER aids clinical interpretation of these rare sequence and copy-number variants by providing tools for variant analysis and identification of other patients exhibiting similar genotype–phenotype characteristics. DECIPHER also provides mechanisms to encourage collaboration among a global community of clinical centers and researchers, as well as exchange of information between clinicians and researchers within a consortium, to accelerate discovery and diagnosis.
The Deciphering Developmental Disorders (DDD) Study aims to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and DNA sequencing methods while addressing the new ethical challenges raised. In partnership with 24 regional genetics services in the UK and Ireland, almost 14,000 children with severe undiagnosed developmental disorders, and their parents, have joined the study. Recruitment closed in April 2015. Read more about DDD
The PAGE study is striving to gain a better understanding of genetic variants causing developmental problems during pregnancy. The ultimate aim is to improve prenatal diagnostics, allowing better genetics-derived prognoses and more informed parental counselling in the future. Read more about PAGE
The Academy is the independent body in the UK representing the diversity of medical science. Its mission is to advance biomedical and health research and its translation into benefits for society.
The Wellcome Trust Sanger Institute is one of the world’s leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease.
Wellcome exists to improve health for everyone by helping great ideas to thrive. We’re a global charitable foundation, both politically and financially independent. We support scientists and researchers, take on big problems, fuel imaginations and spark debate.
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