The UK needs new approaches to developing treatments for rare diseases, according to a new report led by UCL researchers describing how universities, the pharmaceutical industry and the NHS could improve life sciences collaborations.
The report authors are calling for an independent British Office for Rare Diseases, comparable to the Office of Rare Disease Research in the US.
Report co-author Professor David Taylor (UCL School of Pharmacy) said: "Better treatments are already becoming available, particularly for more common forms of rare disease. The advent of cell, gene and other advanced therapies promises more gains. But progress will depend on funding early stage research in settings like universities and providing sufficient financial incentives for companies to develop and provide safe and effective licensed medicines.
"There is a special problem with developing new treatments for very and ultra-rare disorders, which alone affect some 500,000 people in this country."
Over 90 percent of rare diseases still lack satisfactory treatments. The report authors write that innovative ways of funding collaboration between university and charity-funded researchers and scientists in industry could open new pathways to developing better therapies and secure the UK's position as a global centre for the life sciences. Investing in whole genome and other innovative approaches to screening and diagnosis could also improve outcomes amongst children and adults.
Individual rare diseases impact on relatively small groups, but about 7,000 such disorders are now known. Collectively, they directly affect approaching 4 million people in the UK. The new policy briefing reports that if the distress caused to family members is taken into account, then one person in every five in the UK has their quality of life impaired by a rare disease.
The policy briefing, titled Medicines for the Few and the Many, is being published in coordination with the 2022 UCL School of Pharmacy/Royal Pharmaceutical Society lecture on The Future of the British Pharmaceutical Industry by Charlie Galvin.
Galvin, general manager of Amicus Therapeutics and chair of the UK Industry Rare Diseases Group, commented ahead of her lecture: "We are at the dawn of a new golden age for medicine. At this pivotal moment in its history our industry will soon have the ability to help diagnose, treat and potentially cure many more diseases that have until now been untreatable and incurable. This progress will be based not only on fundamental advances in fields like biology and genetics but also on new understandings of the causes of social inequalities and global health problems.
"The challenges of developing rare and very rare disease medicines highlight the fact that there is a need for a new approach. We have a moral obligation to develop the best possible medicines and ensure that every person who may benefit has access to them."
Nick Meade of Genetic Alliance UK welcomed the policy briefing's analysis, commenting: "It brings all of the issues together to face us with the clear question: Do we want to live in a society where people are denied life-saving treatments? Or do we want to design our health service and the wider environment to ensure that people living with rare conditions in the UK can expect to receive the benefits of research that in part takes place here? This debate is moving us towards the moral choice of whether we want to provide these medicines to those who need them."
