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February 11, 2014

Genomics News
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» Wales marks Rare Disease Day 2014

Rare Disease UK will be holding a reception in Wales this evening to mark Rare Disease Day 2014. The event, which will be attended by representatives from the Genomics Policy Unit, University of South Wales, will be held at the Senedd in Cardiff … Continue reading

February 28, 2011

Genomics News
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» Rare Disease Day 2011

Rare Disease Day is marked internationally on the 28th February and Rare Disease UK is responsible for coordinating activities in the UK. The purpose of Rare Disease Day is to raise awareness, both among policy makers and the general public, to call for rare diseases to be seen as a health priority and to provide a voice for people with rare diseases and their families.

Some key messages about rare diseases:
• A rare disease is a condition which affects less than 5 in 10,000 people.
• There are over 6000 rare diseases affecting over 3.5 million people (1 in 17) in the UK.
• Collectively, rare diseases are not rare and the challenges they can present to family life and to the individual are quite common.
• However, NHS services to support people with rare diseases remain patchy and poorly integrated, meaning that individuals with rare diseases in the UK and their families struggle to access the help and support that they need.

Find out more about Rare Disease UK or Rare Disease Day 2011 .

Go to the Telling Stories Understanding Real Life Genetics website to read some real life stories about people’s experiences of living with rare diseases:

Louise’ story – Cri-du-Chat syndrome

Kay’s story – Costello syndrome

Elle’s story – Pseudoxanthoma Elasticum

Sue’s story – Nail-Patella syndrome

February 29, 2008

Genomics News
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» Today is the First European Rare Disease Day

For more information on Rare Disease Day visit http://www.rarediseaseday.org/

Why not use this event as an opportunity to learn or teach about a rare disease through the words of our storytellers. Visit Telling Stories, Understanding Real Life Genetics and select ‘Genetic Condition’ from the Quick Themes drop down list on the right hand side and click on a condition that you’ve not encountered before.

For more information on rare diseases visit Orphanet. This is a free database for patients, professionals, support groups, industry and the public. It is dedicated to providing information on rare diseases and orphan drugs with the aim to improve management and treatment of genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases. As part of the contribution to the awareness campaign, Orphanet is re-launching its website next month.