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Marking Rare Disease Day by celebrating research

Date: 28 February 2018

We are championing rare disease research that’s taking place across the UK as we celebrate Rare Disease Day 2018.

Rare Disease Day takes place on the last day of February each year, and its main aim is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The NIHR is actively supporting the delivery of clinical research into rare diseases across England. Professor John Burn, leading Genetics expert and spokesperson for the NIHR said:

"Research into rare disease is incredibly important to patients and their families - to know why something happened and to stop the questions of ‘did we do something wrong’ can bring enormous relief and reassurance to parents as well as the confidence to have more children. It also allows their clinician to better manage their condition and deliver more effective treatments earlier so research into rare conditions must continue to happen for everyone’s benefit.

This year the NIHR is focusing on describing the significant progress that NIHR has made in making research into rare diseases a priority and how that is benefiting patients. With special focus on the NIHR BioResource and the 100,000 Genomes Project. A range of other case studies have been drawn together in support of the broad range of rare disease research that’s taking place across the specialities.

The 100,000 Genomes Project has recently achieved the halfway milestone and has sequenced its 50,000 genome.  The Project is now a study on the NIHR Clinical Research Network Portfolio with the NIHR providing support to recruit participants and their families with rare diseases and cancers onto this significant Project. Find out more by visiting out campaign pages. Professor John Burns says:

“It’s a fantastic achievement for all involved in the 100,000 Genomes Project to have reached the halfway mark by sequencing the 50,000 Genome. It has only been possible because of the contribution and commitment of the participants in the project and their families.

“This milestone really illustrates how healthcare professionals from across the NHS have come together to transform care for the future, demonstrating how this technology can be utilised as part of routine care to improve patient lives and keep the NHS a world-leader in this important area of medicine.”

The NIHR BioResource for Translational Research in Common and Rare diseases is a national resource of patients and healthy volunteers who have volunteered to be recalled for studies looking at how genes and other factors influence disease. By gaining more information on the genes involved in disease, we can begin to better diagnose rare diseases and potentially find effective treatments. If you’re interested in signing up to the BioResource you can find out more about how it works and why it’s so important.

How you can get involved:

Visit our campaign pages to discover more about research taking place across the NIHR

Share our campaign on your social media channels using the hashtags #ShowYourRare, #rarediseaseday #IamResearch

Tune in to Facebook Live at 4pm on Wednesday 28 February to hear Professor John Burn describing the importance of rare disease research for patients and the NHS.


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    We are championing rare disease research that’s taking place across the UK as we celebrate Rare Disease Day 2018.
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