06:11am Wednesday 08 April 2020

Bringing rare diseases out of the shadows



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

In Europe, a rare disease is defined as one with an incidence of less than 1 in 2,000 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 aim of Rare Disease Day is to highlight the need for more research and funding to help sufferers and their families and to draw attention to rare diseases and the millions of people who are affected by them.

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.

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.

Paralympic champion and Royal Holloway alumna Helene Raynsford is the patron for the College’s Rare Disease Day. Helene, who suffers from rare disease Ehlers-Danlos Syndrome, made history by becoming the first woman to win an Olympic gold in the arms-only single sculls for Great Britain. She completed a Biochemistry degree at Royal Holloway in 2003 and is currently studying an MSC in Human Neuroscience.

Helene will be delivering a keynote speech on the day. She says: “I am delighted to be involved in the day and I hope it goes some way in raising the profile of those lesser known conditions which are often read about in text books but then rarely seen in practice. 

“The day gives the opportunity to showcase the research being undertaken on rarer conditions which is often overshadowed by those conditions with more house hold names. Hopefully it will empower those with rarer conditions to become experts in managing their conditions, increase their health outcomes and enjoy a better quality of life.”   

The event will bring together everyone from patient groups, health professionals and charities to the local community, secondary school pupils and academics. Action Duchenne, Rare Disease UK and Ehlers-Danlos Support UK are among a list of 14 charities attending. They will be raising awareness of the work they do and communicating the message that “together we are strong.”

The programme of events are pitched to a non-scientific audience and includes lectures, exhibitions, hands on activities, lab visits, documentary screenings and the opportunity to find out more about the College’s research and teaching.

Organiser of the event, Dr Rafael Yáñez from the School of Biological Sciences, 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. 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 and follow us on Twitter @RHULScience

For further information email RDD

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