It is now recognised that rare diseases represent a considerable health burden, a fact that is attracting increasing concern both nationally and internationally. More work needs to be done to raise the profile and improve outcomes for people with rare conditions, as well as provide better support for patients and their families.
The timing is right because scientific breakthroughs and new technologies offer hope for diagnoses and treatments for these children that was unimaginable a few years ago. The sooner we can accelerate our research and take advantage of these opportunities, the quicker we can help even more children.
One of the most important ways to do this is to invest in more medical research. It is recognised that paediatric research is even more critical because early breakthroughs are likely to continue to come from the study of children with rare disorders. These findings have the potential to feed into treatments for more common conditions or those affecting adults.
The UK has a good record of supporting and treating people from all over the world with rare diseases; however it is acknowledged that more needs to be done. Both international and UK governments have recently prioritised rare diseases as an area of research requiring further advancement. The UK Government has also recognised the unique position of Great Ormond Street Hospital and the UCL Institute of Child Health at the forefront of global paediatric research into rare diseases and their potential to do even more.