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Rare Disease

Approximately 3.5 million of the UK population will be affected by a rare disease at some point in their lives. 

UCL, the National Institute for Health Research (NIHR) Biomedical Research Centres (BRC) and our Academic Health Science Centre (ASHC) are committed to developing our capacity to tackle rare disease.

We serve a patient population of over six million across the North Thames region, approximately 0.5 million of whom will have a rare disease. Our research is very diverse with over 100 clinical academic research groups investigating more than 350 rare diseases. Of the 70 NHS nationally commissioned specialist services in England, over 30 are based at UCLPartners.

Steering Committee

The UCL Rare Disease Steering Committee comprises key members of the UCL academic and clinical community and aims to develop and implement strategies for rare disease through linking resources and supporting the advancement of clinical and academic research in the field.

Professor Phil Beales (Chair) Dr Paola Giunti Professor Gudrun Moore
Dr Ruth Jamieson (Coordinator) Professor Mike Hanna Professor Francesco Muntoni
Dr Detlef Bockenhauer Professor Simon Heales Dr Ros Quinlivan
Dr Jose Tomas Bras Professor Henry Houlden Dr Gill Rumsby
Dr Gerard Conway Dr Robin Lachmann Dr Rachael Scahill
Professor Ingemar Cox Dr Helen Lachmann Professor Sanjay Sisodiya
Professor Sarah Creighton Dr Nicholas Lench Dr Andre Strydom
Professor Perry Elliott Dr Juan Pedro Martinez-Barbera Professor Sarah Tabrizi
Dr Daniel Gale Dr Nadia Micali Dr Aoife Waters
Dr Julian Gilmore Dr Hannah Mitchison Professor Lucy Wedderburn
Dr Paul Gissen Dr Sara Mole Professor Nicholas Wood​

The UCL Rare Disease database

UCL has developed a comprehensive rare disease database which will be added to this site shortly. The database has been created as a platform for academic and industrial research and is aimed at UCL academics and clinicians, as well as industry representatives, patients and their families. It will include data such as phenotype; disease incidence; experimental status; available model organisms; diagnostic tests; and available therapies.

Genomics England 100,000 Genome Project

Genomics England Ltd (GEL) is a new company set up by the Department of Health to help deliver the 100,000 Genome Project, which was first announced by the UK Prime Minister, David Cameron, in December 2012. This project will sequence the personal DNA code of up to 100,000 patients over the next five years. UCLPartners, the University of Cambridge and Newcastle University are collaborating in a pilot project (Phase 1) which aims to sequence 2000 rare disease samples to evaluate the technology and data acquisition pipeline prior to larger scale endeavours. 

Past Events

Crick Symposium on Rare Diseases (20 Feb 2014)
UCL hosted this event which examined the genetic information that predisposes an individual to a rare disease and explored the mechanisms of rare disease as well as introducing examples of current personalised medicine and therapeutic approaches. Scientists and clinicians from The Francis Crick Institute partners including UCL, King's College London and The Wellcome Trust Sanger Institute presented their research.

UCL Industry Academia & Rare Disease ‘Elevator Pitch’ Workshop (8 July 2013) 
The Rare Diseases Theme organised this highly interactive workshop, which included a range of presentations from speakers representing both clinical academia and industry. The aim was to provide the audience with an understanding of the unique challenges faced by industry during the development of orphan products and the key criteria required in order to make a successful partnership. The event also included an ‘elevator pitch session’ which offered a platform for knowledge exchange between UCL researchers and industry guests.​

UCL Rare Disease Symposium (13 Feb 2013)
The Rare Diseases Theme organised this symposium to showcase some of the outstanding work taking place across UCL in rare diseases. The event also gave researchers in the field the opportunity to interact with each other and identify new possible collaborations.

Special Grand Round – How Rare is Rare? (21 Nov 2012)
This vodcast identifies the challenges and opportunities facing rare disease research and patient management in the UK. It provides insight into a parent’s perspective of life with two children with a rare disease and an example of the development of a successful rare disease therapy. 

Rare Disease
" "UCLPartners, the University of Cambridge and Newcastle University are collaborating in a pilot project (Phase 1) which aims to sequence 2000 rare disease samples to evaluate the technology and data acquisition pipeline prior to larger scale endeavours."