Participants recruited to date
Last updated 11 October 2016
12727
Projects
56
Projects currently recruiting
43
Rare Eye Disease Day for patients and carers
An afternoon of progress updates from some of the UK’s leading researchers and an opportunity for you to have your say about research
Free Rare Renal Support Day this December
Register now for the third national support day for patients and families living with Gitelman or Bartter Syndromes
From l-r: Alastair Kent OBE, Prof Patrick Chinnery, Prof John Bradley
Results from first two years of operation
2013-2015 review of what we have accomplished now available
Training School
Training School
In-depth training to prepare research teams for the rigorous demands of clinical research
Patient care
Patient care
Outstanding care from nurses fully trained in clinical research-specific skills and disciplines
Sequencing
Sequencing
By determining the complete DNA sequence we gain vital insights on disease susceptibility

Rare Diseases

Translational Research Collaboration

Welcome to the National Institute for Health Research (NIHR) Rare Diseases Translational Research Collaboration (RD-TRC) – a collaboration between NIHR Biomedical Research Centres, Biomedical Research Units and Clinical Research Facilities.

As our name suggests, our focus is on the causes, impacts and treatment of rare diseases, of which there are about 7,000 inherited varieties, half of whose genetic basis is yet to be discovered.

These conditions may be uncommon but they affect some 30 million people across Europe – and 1 in 17 of us will be diagnosed with one at some time in our lives.

Three-quarters of these diseases affect children (30% of rare disease patients die before their fifth birthday) and, of course, they also have a huge impact on the lives of parents, spouses, siblings and friends as well as the individual patient.

Clearly, therefore, this is very valuable work.

About us

It’s our mission to harness the strength of the NHS and use the NIHR’s unmatched resources.

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Collaborate

Collaboration between the clinical sector and industry can lead to more focused research.

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Involvement

How do we involve patients, their carers and the public in our work?

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Alastair Kent OBE

The RD-TRC embodies the National Institute for Health Research’s genuine commitment to ensure that our biomedical research projects are translated into treatments that will enhance quality and quantity of life for those affected by rare diseases. If we’re to realise the enormous potential of our new knowledge of rare diseases’ biology, it’s vital that we have a proper framework to bring it into the clinic. The RD-TRC provides exactly that – along with the realistic prospect of new, more effective, affordable and patient-friendly interventions."

Alastair Kent OBE | Director | Genetic Alliance UK |

2014-08-20T14:00:46+00:00

Alastair Kent OBE | Director | Genetic Alliance UK |

The RD-TRC embodies the National Institute for Health Research’s genuine commitment to ensure that our biomedical research projects are translated into treatments that will enhance
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Professor Patrick Chinnery

The Rare Disease Translational Research Collaboration will consolidate our position as world-leaders in rare disease research. Understanding the natural history of rare diseases will accelerate the development of new treatments across the whole of medicine."

Professor Patrick Chinnery
| Co-Chair RD-TRC |

2014-08-20T13:40:14+00:00

Professor Patrick Chinnery
| Co-Chair RD-TRC |

The Rare Disease Translational Research Collaboration will consolidate our position as world-leaders in rare disease research. Understanding the natural history of rare diseases will accelerate the development
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Professor Dame Sally C Davies FRS FMedSci

The NIHR Rare Diseases TRC is working to increase our understanding of the in-depth phenotyping of rare diseases. This phenotyping data will be available to be linked with the increasing amount of genotyping information so that we can advance our understanding of how better to improve diagnosis and treatment for many patients.”

Professor Dame Sally C Davies FRS FMedSci
| Chief Medical Officer and Chief Scientific Adviser at the Department of Health |

2014-08-15T19:27:53+00:00

Professor Dame Sally C Davies FRS FMedSci
| Chief Medical Officer and Chief Scientific Adviser at the Department of Health |

The NIHR Rare Diseases TRC is working to increase our understanding of the in-depth phenotyping of rare diseases. This phenotyping data will be available to
Read more

COMING UP IN DECEMBER…

The third national Gitelman and Bartter Syndromes Support Day will take place in London on Saturday 3 December, for patients and families living with Gitelman or Bartter Syndromes.

For more information about the day, read our latest news post.