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Centre for Children's Rare Disease Research

29 February 2012
John Connolly (Centre for Children's Rare Diseases Research)
John Connolly (Centre for Children's Rare Diseases Research)


Great Ormond Street Hospital Children’s Charity announces plans to build a Centre for Children’s Rare Disease Research.

Announcement made on Rare Disease Day.

Great Ormond Street Hospital Children’s Charity today announces its ambition to raise money to build a Centre for Children’s Rare Disease Research.

The Centre, estimated to cost £66 million to build and equip, will bring together clinical and research expertise from Great Ormond Street Hospital and UCL, in particular the UCL Institute of Child Health. Once opened, the opportunities for children with rare diseases to participate in studies and help doctors and scientists advance understanding of their condition and find effective treatments will increase. Work carried out in the new Centre will mean that the hospital can start to help more children more quickly.

Rare diseases include rare cancers such as childhood cancers, and some other well-known conditions such as cystic fibrosis and muscular dystrophy. Others are less common and may only affect a single person or a handful of people.

75% of rare diseases affect children and 30% of rare disease patients will die before their 5th birthday. There are more than 6,000 rare diseases (Orphanet) and 1 in 17 people will be affected by a rare disease at some point in their lives (Official Journal of European Commission). In the UK, that equates to around 3.5 million people.

Dr Jane Collins, Chief Executive of Great Ormond Street Hospital said: “Rare diseases risk being undiagnosed and therefore untreated. They are also under-researched at present. Although Great Ormond Street Hospital has made some great strides forward, for example with conditions such as x-scid and ADA-scid where we have pioneered an effective gene therapy treatment, much more work needs to be done. Our ambition is to invest in and lead the way in rare disease research and advance understanding and treatments for the benefit of patients at Great Ormond Street Hospital, in the UK and across the world.”

Great Ormond Street Hospital is well placed for a centre of this kind. The hospital’s clinical teams see many children with rare conditions from all over the UK and overseas, across a wide range of clinical specialities. It is the largest recipient of nationally commissioned NHS funding in the country, in recognition of the doctors seeing more children with rare diseases than probably anywhere else in the world.

The hospital’s research partner, the UCL Institute of Child Health, is central to the hospital’s plans. Professor John Tooke, Vice Provost (Health) at UCL said:

“Together, rare diseases represent a major health burden, particularly in childhood. Tackling rare diseases not only provides much needed help for these often neglected conditions but can also provide unique insights into what is happening in more common conditions.

“Recognising the importance of this area, UCL and our Academic Health Science Centre, UCL Partners, are committed to developing our capacity to tackle rare diseases, working with our extensive, nationally commissioned services, partner healthcare organisations and patient groups. A particular focus of our effort is the UCL Institute of Child Health, which has longstanding strengths in this area. The Institute is a key contributor to UCL’s approach to genetic analysis and treatment and currently there are four gene therapy trials running at Great Ormond Street Hospital. Cell therapy and regenerative medicine are other core strengths – for example, the recently publicised children’s stem cell engineered trachea transplant.

“The planned new Centre for Rare Disease Research will help UCL and the ICH realise our full potential to deliver real changes for paediatric patients, who suffer these challenging conditions. A collaborative ethos within and beyond UCL, and profound patient engagement will enhance the impact of the pioneering approaches that will be developed.”

Great Ormond Street Hospital Children’s Charity is delighted that John Connolly (until recently the Global Chairman and Chief Executive of Deloitte) has agreed to Chair the fundraising appeal board. A successful fundraising appeal will lead to the centre opening in 2018.

John Connolly said: “I’m delighted to have been asked to spearhead the appeal on behalf of Great Ormond Street Hospital Children’s Charity. We need to raise £66m to build and equip the Centre, which will be located next to the hospital and the institute. Without these funds the project simply will not happen and the opportunity will be lost.

“I know from personal experience that much more needs to be done to help children with rare diseases and am convinced that The Centre for Children’s Rare Disease Research will make an enormous difference to the health of children who suffer from rare diseases, not just in the UK, but all over the world.

“The scientists and doctors I’ve met from the hospital and institute are just starting to unlock the potential of 21st century medicine. They now know so much more about how the human body works, why it goes wrong and also how they might put it right. But they need our support so that they can grasp the unique opportunity in front of them and accelerate their valuable work to help many more children with many different conditions, some of whom still have little hope of diagnosis or treatment, let alone a cure.”

Supporting statements

Alastair Kent, Chair of Rare Disease UK the national alliance for people with rare diseases and all who support them, is fully supportive of Great Ormond Street Hospital Children’s Charity’s intentions:

“There can be few things more distressing for parents than to learn that their child has a rare disease that is little understood and about which little or nothing can be done. This is a very exciting development that families with children affected by these diseases will be thrilled to hear about. For too long the opportunities for sustainable research have been lacking. The new Centre at GOSH will have the critical mass to generate real expertise to help move us towards the point where more of the rare diseases of childhood are no longer untreatable; rather they will become treatable, curable or preventable. We look forward to a productive collaboration with GOSH in supporting the development of this Centre in the years to come.”

Health Minister, Lord Howe said:

“The UK already has a strong record of supporting and treating people with rare diseases but we know we can improve on this. I fully support Great Ormond Street Hospital Children’s Charity fundraising campaign to help build a Centre for Children’s Rare Diseases Research . A new centre of this kind will help unlock our understanding of rare diseases and will ultimately save lives”.

Contact information

GOSH-ICH Press Office: 020 7239 3125
Email: andrea.ttofa@gosh.org
For genuine and urgent out of hours call speak to switchboard on 020 7405 9200.

Notes to editors

For further information please contact Andrea Ttofa, Great Ormond Street Hospital press office on 0207 239 3039 or email andrea.ttofa@gosh.org

Great Ormond Street Hospital for Children NHS Trust is the country’s leading centre for treating sick children, with the widest range of specialists under one roof. With the UCL Institute of Child Health, we are the largest centre for paediatric research outside North America and play a key role in training children’s health specialists for the future.
Our charity needs to raise £50 million every year to help rebuild and refurbish Great Ormond Street Hospital, buy vital equipment and fund pioneering research. With your help we provide world class care to our very ill children and their families. www.gosh.nhs.uk

UCL Partners

UCLPartners is one of five accredited academic health science systems in the UK. Our purpose is to translate cutting edge research and innovation into measurable health gain for patients and populations – in London, across the UK, and globally.
To achieve this, we develop integrated, value-for-money, outcome-driven solutions to the most pressing health care challenges. These solutions include faster drug discovery and development; innovative technologies; new approaches to clinician education and professional development; and models of care that drive both quality and value.

Rare Disease UK

Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. RDUK has over 1,100 members including over 190 patient organisations, health professionals, researchers, professional bodies, researchers, the pharmaceutical industry and individual patients and carers. RDUK has been active in campaigning for a UK plan to improve service provision and to facilitate research into rare diseases.