Rare diseases in the spotlight as GOSH hosts launch of UK strategy

Great Ormond Street Hospital (GOSH) hosted the launch of the first UK Strategy for Rare Diseases which aims to build understanding of rare diseases, support patients and families and boost research to find effective treatments and therapies.

The hospital was chosen to host the announcement because of its leading role in the fight against rare diseases. GOSH runs a large number of nationally commissioned services for rare diseases and with its charity, is building a new Centre for Children’s Rare Disease Research which will play a key role in developing therapies for many disorders for which no treatment or cure currently exists.

At the launch, Health Minister Lord Howe outlined the UK’s vision for research, support and training in the diagnosis and treatment of rare diseases.

Speakers at the launch included Baroness Blackstone, Chairman of Great Ormond Street Hospital; Professor David Goldblatt, Director of Clinical Research and Development at GOSH and Director of the NIHR GOSH/UCL Biomedical Research Centre; Professor Rosalind Smyth, Director of UCL Institute of Child Health; Mike Berwick, Deputy Director of NHS England; and Alastair Kent OBE, Chair of Rare Disease UK and Director of Genetic Alliance UK.

During his visit to GOSH, the Right Honourable Earl Howe met with a number of experts based at the hospital’s research partner, the UCL Institute of Child Health (ICH). Professor Bobby Gaspar, a pioneer in gene therapy for severe combined immunodeficiencies (SCID), introduced Lord Howe to GOSH patient Nina, a patient on a new clinical trial for SCID led by GOSH. Professor Philip Beales, an expert in medical and molecular genetics, Bardet-Biedl syndrome and related rare conditions, then accompanied Lord Howe on a tour of the research laboratories at the ICH.

GOSH’s new Centre for Children's Rare Disease Research, to be built at a cost of £85 million with a completion deadline of 2017, will bring together clinical and research expertise from GOSH and UCL, and in particular the ICH. 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.

There are over 6,000 rare diseases, with over 3 million people currently being treated for these conditions in the UK alone. Tragically, 75% of rare diseases affect children and 30% of children diagnosed with a rare disease die before their fifth birthday.

Professor David Goldblatt, Director of Clinical Research and Development at GOSHand Director of the NIHR Biomedical Research Centre, welcomed the new strategy and its focus on rare diseases. He said:

“Many of the children attending Great Ormond Street Hospital suffer from rare diseases. Their families’ experience of delays in the recognition of their syndrome or the absence of a clear diagnosis can be profoundly affecting. We look forward to continuing our work, in partnership with local NHS Trust and Primary Care doctors, in improving the experience of families with rare diseases.

“Rare diseases are under-researched at present and in response, the NIHR-funded Biomedical Research Centre at GOSH and UCL is now focussing almost exclusively on rare disease experimental research. While Great Ormond Street Hospital has made some great strides, for example in pioneering gene therapy, much more work needs to be done.

“Our ambition is to invest in rare disease research and advance understanding and treatments for the benefit of patients across the world. The hospital’s charity is building a new Centre for Children's Rare Disease Research for the hospital and UCL Institute of Child Health, which will play a key role in developing therapies for many disorders for which no treatment or cure exists.”

Case study - Nina

A baby born without an immune system is trialling a world-first gene therapy to give her the chance of living outside a sterilised environment. Nina, 20-months old, suffers from severe combined immunodeficiency (SCID), an inherited condition also known as ‘bubble baby’ syndrome where the body is unable to fight germs. At five weeks old when she was diagnosed, Nina had multiple infections including advanced pneumonia. Parents Graeme and Aga made the decision to try the radical new therapy.

The treatment, devised by Professor Bobby Gaspar and his team at Great Ormond Street Hospital, works by re-engineering Nina’s own bone marrow to add a vital missing gene. Doctors hope this will re-boot her defence systems. Nina has been able to return home to be with her parents and sister Mia. At six months following treatment, Nina has shown encouraging signs of recovering her immune system, and doctors have been able to stop some of her protective medication.