BIH Lecture Series | Frontiers in Translational Medicine – Scientific and Structural Challenges
The UK 100,000 Genomes Project has focussed on transforming genomic medicine in the National Health Service using whole genome sequencing in rare disease, cancer and infection. Whole genome sequencing is reading as much of entire genetic code as we can today. Genomics England partnering with the NHS established 13 Genomic Medicine Centres, the NHS whole genome sequencing centre and the Genomics England Clinical Interpretation Partnership (3500 researchers from 33 countries). They sequenced the 100,000th genome on the 5th December 2018 and have returned results to the NHS. Alongside these genomes, they have assembled a longitudinal life course dataset for research and diagnosis including 3.8 billion clinical data points for researchers to work on to drive up the value of the genomes for direct healthcare. In parallel, Genomics England have partnered the NHS to establish one of the world’s most advanced Genomic Medicine Services where they re-evaluated 300,000 genomic tests and upgraded 25% of tests to newer technologies with an annual review and 500,000 whole genomes will be available from direct care over the next 5 years.
Professor Sir Mark Caulfield is Chief Scientist for Genomics England and Director of the NIHR Barts Biomedical Research Centre. In our Online BIH Lecture, he will report on the 100,000 Genomes Project and how it is advancing medical translation.
Sir 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, which has discovered over 1000 gene loci for blood pressure. He served on the NICE Guideline Group for hypertension and was President of the British Hypertension Society (2009-2011).
He was Director of the William Harvey Research Institute between 2002 and 2020 and was elected a Fellow of the Academy of Medical Sciences in 2008. Since 2008 he directs the National Institute for Health Research Cardiovascular Biomedical Research Unit and Centre at Barts. Between 2010 and 2015 he co-led the merger of three hospitals in North London to create the new £400 million Barts Heart Centre.
He has won the Lily Prize of the British Pharmacology Society, the Bjorn Folkow Award of the European Society of Hypertension 2016 and the Franz Volhard Award of the International Society of Hypertension in 2018.
In 2013 he became an NIHR Senior Investigator and was appointed as the Chief Scientist for Genomics England (100,000 Genomes Project). Sir Mark was awarded a Knighthood in the June 2019 Queen’s Birthday Honours List for services to the 100,000 Genomes Project.
Due to the current situation regarding the pandemic, the BIH Lecture will be held online via GoToMeeting. To participate in the BIH Lecture, please register in advance. The registration will be open until maximal participant capacity is reached.
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