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'Rare, but still affecting 24 million of us': Royal Holloway puts spotlight on rare diseases

Posted on 28/02/2013

Pupils learn about rare diseases

To mark Rare Disease Day 2013, Royal Holloway is today hosting an event for secondary school pupils and the general public to learn more about rare, often inherited, diseases and highlight this important healthcare area with interactive and engaging activities.

Jeans for Genes Patron, Adam Pearson will talk about his own experiences living with neurofibromatosis, while the zany side of science will be explored in the stand-up comedy act Zombie Science. In addition, pupils will be able to make their own DNA origami and take part in a ‘Countdown’ style activity which shows how one misplaced ‘letter’ can affect genetic make-up.

Organisers Dr Rafael Yáñez and Professor George Dickson from the School of Biological Sciences at Royal Holloway will also be on hand to talk about their pioneering research into a number of devastating, inherited diseases. These include Spinal muscular atrophy, a neurodegenerative disorder affecting 1 in 6,000 newborns which causes degeneration of skeletal and breathing muscles and can be fatal for most affected children, and Duchenne muscular dystrophy, a condition that affects 1 in 3000 young boys and leads to a progressive muscle wasting and weakness which is very debilitating and ultimately life-threatening.

 “It is important for us to highlight this area to the next generation who will certainly be responsible for taking research forward and continuing the ongoing campaign for resources and funding in order to find cures for these crippling diseases,” said Dr Rafael Yáñez.

Indeed, limited funding is often cited as a barrier to research as is a lack of knowledge and awareness among healthcare professionals of rare diseases. This often leads to delays in diagnosis and misdiagnosis of rare disease patients.

“Around 1 in 17 people will be affected by a rare disease at some point in their lives,” said Professor George Dickson. “These diseases are often chronic and life-threatening, so while we may call them rare, this doesn’t mean that they can be ignored or looked over. They represent a major healthcare challenge for medical research, for clinical practice and for society in general”

More information about Royal Holloway’s event is available from: http://www.rhul.ac.uk/biologicalsciences/rdd/rarediseaseday.aspx

This year’s event is supported by The Alumni Fund at Royal Holloway.


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