Challenge? Maybe it depends on your perspective. It's all very well for me to sit in the Crick and talk about the challenge of rare disease. I haven't got one.
I haven't had to deal with the shock, bewilderment, loneliness, misinformation, struggle for recognition, social stigma, economic detriment, ignorance of professionals and lack of evidence-based treatment.
And that's before we talk about the physical impact of the conditions themselves. People and their families living with rare disease can really tell you about the challenge.
Nonetheless clinicians and researchers are also challenged by rare disease.
It can be hard to secure funding to study diseases that don’t affect large numbers of people. Most research funders want not only maximum impact on the maximum population, but measurement of that maximum impact. Metrics they stipulate include prevalence, disability adjusted life years, quality of life indices and detailed health economic analyses. And these are mostly unknown in rare diseases.
Clinical trial design also suffers from the lack of people who are able to take part, where even with multinational collaborations, statistical sample size calculations can be a vain hope and gold-standard randomisation a practical impossibility.
These intrinsic difficulties are compounded by the inevitable lack of specific expertise within high impact journals, which can lead to impossible demands for a doubling of human samples in basic research, or demonstration of statistical significance in validated clinical outcome measures. And high impact publications continue to dictate further grant funding for the majority researchers.
Unsurprisingly, due to these challenges, researchers frequently steer their paths away from rare disease, missing out not only on the unique biological insights it can bring, but also the opportunity to have a large impact on the people who suffer.
There is, however, hope. Over the last two decades there has been a ground swell of activism from patient groups, which is driving change from the bottom up. In the absence of information from their local doctors they have taken to social media, building networks across borders and languages which have started to carry weight. The best-organised groups have funded much of the basic research needed to get their disease on the agenda of receptive clinicians and scientists. It’s cake sales and sponsored bike rides in the pouring rain that have pump-primed major research discoveries. The people have demanded more, and it is the people who are making it happen.
With the upcoming first Crick Rare Diseases Conference ironically delayed by two years by a novel common disease, it's time to get rare disease some visibility in the big research arenas.
Let's stop trying to compete on a never-level playing field and acknowledge that rare disease research is different, different but no less effective, different but no less important. Let's challenge the required metrics, adapt the trial designs, convince the universities to patent and the investors to invest with the promise of maximal life impact, even if on a small scale. Some enlightened funders such as the EU Horizon programme have acknowledged the issues and created proper dedicated funding streams for rare disease. In my opinion, all major funders should sit up and do the same.
So challenge accepted. Bring it on.