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Bringing rare diseases out of the shadows

Posted on 13/12/2011

Rare Disease Day 2011 exhibition

Royal Holloway, University of London, will be hosting a Rare Disease Day event on 29th February 2012 - a rare day itself as it will be a leap year.

The aim of the day is to highlight the need for more research and funding to help sufferers and their families as part of a new international effort(IRDiRC) and to draw attention to rare diseases and the millions of people who are affected by them,.

Royal Holloway is a leading institution in the development of novel therapies for rare diseases, including Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, and Severe Combined Immunodeficiency., and Severe Combined Immunodeficiency.

Our event aims to bring together everyone from patient groups, health professionals and charities to the local community, secondary school pupils and academics.

Please visit our website for a programme of events which are pitched to the level of a non-scientific audience and includes lectures, exhibitions, seminars, online and hands on activities, lab visits, documentary screenings and the opportunity to find out more about the College's research and teaching in our School of Biological Sciences, and exciting new developments in Gene Therapy.

In Europe, a rare disease is defined as one with an incidence of less than 1 in 2000 people. While each of them is rare, there are more than 7,000 rare diseases, which together affect 24 million (6%) people in Europe and take 20% of all health care costs. Rare diseases are a serious public health concern and an international priority but unfortunately often very little is known about them by health professionals and the public alike.

The International Rare Disease Research Consortium (IRDiRC) was launched in April 2011 to foster international collaboration in rare diseases research. IRDiRC’s vision, to join efforts to alleviate the suffering of individuals affected by diseases for which today there are no treatments available, is shared and supported by Royal Holloway.

Organiser of the event, Dr Yáñez from the School of Biological Sciences at Royal Holloway, says “Gene Therapy is now delivering on its early promise of treating rare diseases, and combined with developments in stem cells will eventually revolutionise the care of these disorders. The International Rare Disease Research Consortium (IRDiRC), set up last April by the US, Canada and the European Union, has stated goals of delivering diagnostics for most rare diseases and cures for 200 of them by 2020. The UK is one of the international leaders in rare disease research but has yet to commit serious support to IRDiRC. This must change if we want to retain a prominent position in the delivery of therapies for rare diseases.”

Please visit our Rare Disease Day webpage http://www.rhul.ac.uk/rarediseaseday and follow us on Twitter @RDD2012 (http://twitter.com/#!/RDD2012).

For further information, email RDD@rhul.ac.uk.


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