Why we want to create the Centre for Research into Rare Disease in Children

We want to create a building in which scientists and doctors can work side by side to care for children and young people with rare diseases, learn more about what is making them unwell and discover new ways to help them get better.Great Ormond Street Hospital NHS Foundation Trust (GOSH) and UCL’s Institute of Child Health (ICH) and Institute of Cardiovascular Science (ICS) undertake research and develop new diagnostics, treatments and devices that can improve the lives of patients treated at our hospital and children elsewhere in the UK and abroad.

Rare diseases are complex and not well understood in comparison to other illnesses. This means that sufferers often experience a delay in getting diagnosed and have limited options for treatment.

But recent advances in science and technology offer new hope. Genomics (the science of genetic mapping and DNA sequencing) is helping scientists to identify the genetic basis of rare diseases. And new treatments such as stem cell therapies allow us to offer patients the chance of a longer and fuller life.

Bringing knowledge, technology and patients together in one place would speed up the ‘bench to bedside’ process of developing new treatments.

The building would give our medical and scientific experts the facilities and access to patients they need to:

• Understand and read genetic codes more quickly
• Develop gene and cell therapies to treat genetic conditions
• Use stem cells to regenerate organs or tissues
• Manufacture new medical devices 

Most importantly, it will bring breakthroughs and cures for rare diseases closer with every passing day.