GOSH research hopes to save lives of children with rare diseases

Categories: Research.

Professor David Goldblatt, who is the director of clinical research at Great Ormond Street Hospital (GOSH), claims that there are signs that rare diseases in children are more common than cancers, “if we put all the rare diseases together there are suggestions that they are more common than cancer. This is not a niche thing.”

The article revealed some interesting statistics that there are more than 6000 recognised rare diseases and 75 per cent of these affect children. Unfortunately only 5 per cent of funds spent on medical research in the UK are allocated to children. This shocking statistic is despite the fact that 30 per cent of children diagnosed with a rare disease won’t live beyond 5 years old.

GOSH has the largest concentration of paediatric health researchers in Europe and 51 different paediatric clinical specialists that are very focused on research around rare diseases. GOSH have partnered with the UCL Institute of Child Health to look into rare diseases such as genetic disorders, rare cancers, cystic fibrosis, muscular dystrophy, diseases of the immune system, birth defects and infectious diseases. “The tradition at GOSH of treating rare diseases other doctors couldn’t goes right back to 1852 when Charles West founded the hospital. And if we jump to today we are known for expertise in rare, chronic and complex cases,” said Professor Goldblatt.

Professor Goldblatt is considering introducing a generic consent scheme at GOSH, where all new patients would be asked if they would like to make their information available for medical research. “Ofcourse we need to be careful about the way we use and store data, but the families we see are often desperate to share their child’s genetic code to get a clue towards a possible cure,” he said. To read the full article, please click here.