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Rare Disease Day 2017

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. So although each one is rare, as a group they are common. So much so, that 1 person in 17, or 7% of people are affected by a rare disease.

About 80% of rare diseases have a genetic cause. The cause is often a single changed ‘letter’ amongst the 3.2 billion letters of DNA that make up the human genome. Finding that one crucial change is often like finding a needle in a haystack. This first step – identifying the cause of the disease – has remained challenging until now for most rare diseases. In turn, this has prevented medicine from answering the obvious next questions for rare disease patients: what should I expect in the future? Why has the disease happened? Is there a way of curing my disease or any hope of doing so in the future? Will my child have the disease?

The 100,000 Genomes Project is an opportunity to break the mould for patients in the NHS. We are sequencing DNA from patients with rare conditions and their relatives. We aim to find the cause of the condition for people who medicine has failed to diagnose until now.

No-one has ever attempted whole genome sequencing on this scale before. Much of our work until now has been in establishing the tools and infrastructure we need to deliver results to hundreds of participants a week.

Results will continue to be returned throughout 2017 and 2018.

Thank you – to all of you affected by rare disease who have joined the 100,000 Genomes Project. Without your involvement we wouldn’t have been able to make this ground breaking project happen. We have spent many months building our new semi-automated results pipeline. This world first means that in future rare disease patients’ genome sequences can be analysed automatically. This is a key step in making sequencing available for anyone with rare disease who needs it. But it’s been complex and has taken much longer to build than we thought and we know many of you are still waiting to receive your results and feedback. Thank you for bearing with us. The good news is over 1,300 results have been released to NHS Genomic Medicine Centres. They now have to be double checked by the NHS (validated) but we are finally getting there. Thank you from all of us.

Professor Mark Caulfield

Chief Scientist at Genomics England

Media contact

[email protected]

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