Royal Holloway sheds light on those with rare diseases 'left in the dark'

Experts at Royal Holloway, University of London showcased on 28 February 2011 the experiences of people affected by rare diseases - and revealed exciting new developments in Gene Therapy – at the same time as a report found that more than half of people with rare conditions are ‘left in the dark’ over medical needs, according to Rare Disease UK (RDUK).

Royal Holloway is a leading institution in the development of therapies for rare diseases and this was the biggest event organised in the UK to support Rare Disease Day 2011. 

At the event, scientists  revealed for the first time new technologies developed to revolutionise the treatment of many rare and several common acquired diseases for which no current cure exists – such as inherited spinal diseases and blindness, Parkinson disease, and muscular dystrophy.

RDUK’s report issued at parliament on 28 February 2011 showed that these people living with rare conditions are often not provided with sufficient information on their medical, psychological and social needs at first diagnosis. Forty-six per cent of people with a rare condition had to wait more than a year for a diagnosis, while a further 20 per cent had to see more than six doctors before receiving a diagnosis, leading to a deterioration of the condition, inappropriate treatment and medication, and significant distress and isolation for the patient.  

The report set out recommendations for a coherent national strategy that will increase healthcare professionals’ knowledge of rare diseases.

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 a priority in Europe, but unfortunately often little known to health professionals and the public alike 

To raise awareness of rare diseases, experts at Royal Holloway have united to showcase their research in this field – which includes the development of novel therapies for rare diseases, such as spinal muscular atrophy, Duchenne muscular dystrophy, and severe combined immunodeficiency (child in a bubble disease) – through lectures, exhibitions, lab visits and screenings for Secondary schools and the wider community.

Dr Rafael J. Yáñez-Muñoz, organiser of the day, said: “On Rare Disease Day, we wanted to host an event in which the patient associations, the support services from College, professional associations (like the British Society for Gene Therapy) and the scientists themselves would present together to the general public. The response from all these partners has been outstanding and we are hosting the largest event in the UK.” 

Professor George Dickson added: “Royal Holloway is a centre of excellence in scientific research into rare diseases, and discovery of new experimental treatments, in particular for illnesses affecting the nerves and muscles. This exciting event marks the special difficulties faced by patients and families with uncommon illnesses which are nevertheless often extremely debilitating, and yet untreatable.

“We are celebrating many wonderful partnerships between patient groups, hospitals and university research teams which are beginning to bear fruit in many areas. Public and government is crucial to get new treatments through to the clinic.” 

Royal Holloway’s Rare Disease Day 2012 programme.

Royal Holloway, University of London
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Royal Holloway sheds light on those with rare diseases 'left in the dark'