Rare Disease Day – 10 Year Anniversary

LONDON, February 27, 2018 /PRNewswire/ --

• Rare Disease Day takes place on the 28^th February  
• 1 in 20 people will live with a rare disease at some point in their life  
• The National Institute for Health Research (NIHR) is supporting the 100,000 Genomes Project and recruiting patients into this project.  
• 100,000 Genomes Project has reached its halfway mark and sequenced the 50,000 genomes

28^th February 2018 marks the 10-year anniversary of the inaugural Rare Disease Day where people around the world are encouraged to inform and educate those around them of rare diseases and their impact on patients' lives.

Building awareness of rare diseases is important because it's estimated that 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

This year, the National Institute for Health Research (NIHR) is supporting the 100,000 Genomes Project by helping clinicians to recruit patients and their families with rare diseases and cancers into this project. Genomes are an organism's complete set of DNA, including all of its genes. The 100,000 Genomes project is being delivered by Genomics England (a company owned by the Department of Health and Social Care) and aims to sequence 100,000 whole genomes from NHS patients, enabling new scientific discovery and medical insights.

A research community of over 2,500 academics, clinicians and trainees have come together to work on the 100,000 Genomes Project dataset and help to improve our understanding of genomic medicine and its application to healthcare.

The ultimate aim of the project is to create a new genomic medicine service for the NHS - transforming the way people with rare diseases and cancers are diagnosed and cared for.

As part of the Project patients may be offered a diagnosis where there wasn't one before. The project will also enable new medical research to take place, by providing researchers with access to the collected data for studies into rare diseases and cancers. In time, this could provide new and more effective treatments for patients and their families.

Sir John Burn, genetics and rare disease research expert said, "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."