Dr Matthew Hurles

Dr Matt Hurles, Scientific Director at Congenica, has recently been elected to the Academy of Medical Sciences; an independent UK body that promotes and supports medical research. The Academy directly engages with the public by providing research experts with a platform to communicate their expertise. Additionally, the academy utilises this expertise to work with the government and inform scientific policy. Research leaders elected as fellows of the Academy have made significant advances to our scientific knowledge and are central to achieving these aims.

Matt’s admission to the Academy, which will formally occur in June, is in recognition of his significant contribution to medical research in the field of genetics. Matt leads the Genomic mutation and genetic disease research group at the Wellcome Trust Sanger Institute, which focuses on identifying the genetic causes of severe developmental disorders and understanding how mutations in DNA are passed between generations and families. Matt and his team are directly involved in a wide-range of large-scale research projects, such as the DDD (Deciphering Developmental Disorders) project and PAGE (Prenatal Assessment of Genomes and Exomes).

Matt’s leadership of the DDD project has overseen how novel genetic discoveries can lead to clinical benefits that in turn are directly felt by patients and their families. The project involves almost 14,000 UK-based children suffering from an undiagnosed and severe developmental disorder, and their families. Exome sequencing within a trio (the mother, father and affected child) has been used to identify the likely genetic cause of the disorder; information that is reported back to clinicians and families to improve patient outcomes.

Earlier this year, to add to these successes, Matt was also appointed as the new Head of the Human Genetics Programme at the Wellcome Trust Sanger Institute. This world-class programme consists of multiple research groups connected through the common goal of utilising population-scale datasets not only discover novel genetic loci but also to inform our mechanistic understanding of human health and disease. Matt first joined the department in 2003 as a member of the Scientific faculty. These two recent appointments are the latest in a long line of accolades for Matt; throughout his career he has also been awarded the Balfour Lecture by the Genetics Society and the Crick Lecture by the Royal Society, both in acknowledgement of Matt’s central role in the advancement of human genetics.

Building on his wealth of knowledge and experience, Matt is one of the co-founders of Congenica. With the ever-increasing numbers of disease-causing genetic variants continually being discovered from projects such as the DDD, the bottleneck to translating genomics in the clinic now lies at the variant interpretation stage. Congenica’s Sapientia is the platform of choice for a number of high profile projects including the 100K Genomes Project. Sapientia rapidly assimilates genetic sequence data and clinical information (patient phenotypes) to generate a prioritized list of variants that are likely to be causing disease and can therefore be utilised in a clinical diagnostic setting.

More information about Sapientia

See Matt’s Francis Crick lecture

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