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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.

Login via GoToMeeting

Please note that the login link and access code are not sent out immediately after your registration! You will receive both the evening before the event. You have the following possibilities to participate:

  • You can download the GoToMeeting App beforehand (please do so before the lecture starts!)
  • You can link in via the Browser (preferably Chrome)
  • You can dial in by telephone (you will receive the dial-in number after your registration)

For security reasons, please login to GoToMeeting with your full name and institution (preferably in abbreviated form). In order to save online capacity and to keep the transmission stable, we kindly ask you to turn off your camera and microphone immediately after joining the session and during the lecture.

Discussion via Chat Room

The discussion will be held via the Chat Room function of GoToMeeting. If you would like to join the discussion, please type in your question into the chat area and moderators will pose the question to the speaker or arrange a dialogue if applicable.


The BIH Lecture will be recorded for the documentation on our website. If you do not wish to be recorded, please make sure your camera and microphone are turned off at any time.

Thank you for your cooperation!


Friday, 29 January 2021
12 – 1 pm


via GoToMeeting

A login-link or dial-in number for the phone as well as an access code for the BIH Lecture will be provided the evening before the event.


Please register here.
The registration will be open until maximal participant capacity is reached.