Defining Rare Disease Data Models Tuesday 5 May 2015


Wellcome Trust
6th floor
Gibbs Building
215 Euston Road
London NW1 2BE


10:00 – 16:00 (with optional breakout sessions starting from 13:45 onwards)


The morning segment of this event will be focused on Genomics England giving an update on the rationale behind the generation of rare disease data models and how they have been developed. In the afternoon, there will be optional breakout sessions aimed at addressing challenges in the generation of data models and providing individuals with the opportunity to learn about the data model development and curation process and to provide specific feedback. The optional Data Model Clinic will be an opportunity to discuss specific data models in detail with us on a 1-1 basis.

This event is open to scientists and clinicians in the rare disease research community, particularly those from NHS Genomic Medicine Centres or belonging to a GeCIP Domain.

To register your interest in attending the meeting, please email your details to [email protected].

Click here to view the event agenda. 

Biographies of speakers

Professor Mark Caulfield

Chief Scientist, Genomics England

Mark 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. He is a Fellow of The Royal College of Physicians.

In 2000 Mark created the Barts and The London Genome Centre at the Queen Mary University of London. Since 2008 he has directed the Barts National Institute of Health Research (NIHR) Cardiovascular Biomedical Research Unit. Mark was appointed Director of the William Harvey Research Institute in 2002 and elected to the Academy of Medical Sciences in 2008. His particular areas of research are Cardiovascular Genomics and Translational Cardiovascular Research and Pharmacology. In 2013 he became an NIHR Senior Investigator.
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