By Dr Rafael J. Yáñez-Muñoz
Senior Lecturer in Genetics, Royal Holloway, University of London
I work on genetic therapies for rare diseases at Royal Holloway, University of London. February 29th will be international Rare Disease Day, an awareness Day for which we have organised a number of events for the general public at Royal Holloway (www.rhul.ac.uk/rarediseaseday).
Rare diseases are a major health concern even if most of us are unaware of their impact. A rare disease will affect fewer than 1 in 2,000 people, and may be even unfamiliar to your GP. Most of us will have heard of cystic fibrosis or sickle cell anemia, but there are about 7,000 rare diseases. Whether you know or not, it is likely that someone on your street, in your child’s classroom or at work is affected by a rare disease. As few people are affected by each single disease, they are of little interest to the pharmaceutical companies and not much resources are devoted to finding cures. Support for people affected is mostly provided by family-led patient associations that work tirelessly to provide help and advice and fund research on the relevant disease.
However, all together rare diseases affect 6% of people in Europe and take 20% of health care costs. There is a growing realisation of their importance and last year an International Rare Disease Research Consortium (IRDiRC) was set up by the European Union, the US and Canada with the ambitious goals of developing diagnostic methods for most rare diseases and curing 200 of them by 2020. In the UK the Royal College of General Practitioners has recently declared rare diseases, with a particular focus on motor neuron disease, a clinical priority.
Gene and cell therapies offer the strongest hope of a cure for many rare diseases. Several of them, including severe combined immunodeficiencies (“child in a bubble” diseases), X-linked adrenoleukodystrophy, haemophilia and Duchenne muscular dystrophy have either been cured or seen very encouraging results in clinical trials of genetic therapies. All in all, it seems that the tide is turning and rare diseases are starting to get some of the attention, support and clinical success that are long overdue. To sustain these efforts it will critical that the main research funders in the UK prioritise rare disease research and make a more significant contribution to funding research for rare diseases.