A technology breakthrough that started in Cambridge has brought us to the point where we are able to decode the entire DNA sequence of 100,000 genomes to determine mutations that cause rare genetic diseases and cancer. Dr David Bentley, Chief Scientist illumina and Professor Mark Caulfield, Chief Scientist Genomics England discuss how this project promises to revolutionise the way we practice medicine.
Professor Mark Caulfield
Mark Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew’s Hospital where he developed a research programme in molecular genetics of hypertension and clinical research. In 2009 he won the Lily Prize of the British Pharmacology Society. In 2000 he established the Barts and The London Genome Centre which now underpins over 40 programmes of research. Since 2008 he directs the Barts National Institute for Health Research Cardiovascular Biomedical Research Unit. Mark was appointed Director of the William Harvey Research Institute in 2002 and was elected a Fellow of the Academy of Medical Sciences in 2008. He led on fundraising towards the £25m William Harvey Heart Centre which created a translational clinical research centre. Mark served on the NICE Guideline Group for hypertension and leads the Joint UK Societies’ Working Group and Consensus on Renal Denervation and was President of the British Hypertension Society (2009-2011). In 2013 he became an NIHR Senior Investigator and was appointed as the Chief Scientist for Genomics England (NHS 100K Sequencing Project) 2013-2017.
David Bentley DPhil FMedSci
David is Vice President and Chief Scientist at Illumina Inc. and graduated with an M.A. in Natural Sciences from Cambridge and a D.Phil from Oxford. During his career he has been a Senior Lecturer at London University; and later the Head of Human Genetics and a founder member of the Board of Management at the Sanger Centre. David has played a leading role in the Human Genome Project and related international consortia to characterise human sequence variation, including The SNP Consortium and the HapMap Project. His long-term interest is the study of human sequence variation and its impact on human health and disease. His current research is focussed on fast, accurate sequencing of human genomes for adoption and benefit in healthcare, with early applications including rare genetic disease and cancer. These applications are exemplified in the goals of the 100,000 genomes project, a partnership that includes Illumina, Genomics England and the National Health Service.