100,000 Genomes Project: Transforming Healthcare

The human genome is a complete set of nucleic acid sequences, encoded as DNA within the 23 chromosome pairs in cell nuclei and within individual mitochondria. Especially in recent years, DNA sequencing technologies have rapidly evolved and are now more advanced than ever.

Exploring the potential of genomic technologies, The 100,000 Genomes Project aimed to sequence 100,000 genomes from around 70,000 people with cancer or rare disease. The ultimate goal of Sir Mark Caulfield and his team of scientists was to establish a world-class genomic medicine service across the NHS in the UK, transforming the way people are cared for. Over 200 genetic diseases and certain types of rare cancer types were included, making this project the most advanced national sequencing programme of its kind in the world.

Results from the project are now providing patients and families with precise diagnoses and the opportunity to further understand the condition that affects them. Research conducted on the generated data has the potential to bring personalised treatments to all those who need them – revealing which variants cause disease is aiding companies to find new targeted medicines.

About our speaker

Mark Caulfield

Professor of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, UK

Sir Mark Caulfield graduated in Medicine 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 the 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.