Rare Disease Blogs

Yesterday, I was not happy. I’d been talking to a major funder, trying to find out more about whether we could apply for funding for our fast moving scientific research and upcoming clinical trials for Alkaptonuria (AKU), the rare genetic disease affecting my two sons. The funder was very helpful in explaining the different funding schemes and how to apply. But what made me thoroughly disappointed – even sad – was to find out that this major funder had no clear strategy for rare diseases, no dedicated funding streams for rare diseases, and no firm intention of doing anything more on rare diseases.

I went home last night and was lying in bed thinking about it, unable to sleep. The conversation had awakened in me a deep sense of injustice. How are we ever going to help the 8% of the population that has one of the 7,000 known rare diseases if most of the major funders still don’t see it as a priority?

It’s not the first time this has happened. Let me give you another example. A few months ago we applied to another major funder. Our application was so strong, our publications list so impressive, that we got selected out of 1,400 applications to go through two rounds of internal reviews, received glowing peer reviews, and got to the final assessment panel. Yet the questions of the panel showed that they had barely read the proposal and had no understanding of why studying rare diseases is so important.

I believe there are two key problems here:

1. Most funders – at least in the UK – are still stuck in the old numbers game. Cancer or heart disease, they say, are the biggest killers. Hence they invest in these areas.
2. The majority of funders have deeply flawed assessment processes. They don’t know how to select good applications. And I believe that’s a big reason why so much scientific research fails.

So what are the solutions? Here are my recommendations:

1. We need to build a mass movement for rare diseases. The other day I was walking through Cambridge and saw hundreds of women dressed in pink for Cancer Research UK’s Race for Life event. It’s the biggest women-only charity fundraising event in the UK, raising millions for Cancer Research UK and helping put cancer high on the public and political agenda.

We need a similar mass movement for rare diseases. It’s the only way of convincing the public, the politicians, the funders and the health system that the millions of people with rare diseases really count.

2. We need to show how studying rare diseases has wider implications. William Bateson, the famous Cambridge geneticist who died in 1926, once said ‘treasure your exceptions’. Bateson was a friend of Sir Archibald Garrod, who first identified Alkaptonuria as an inborn error of metabolism in 1901. Both Bateson and Garrod knew that the study of rare diseases – the ‘exceptions’ – was a golden gateway to understanding common diseases. More than 100 years later, our Alkaptonuria scientists in Liverpool are discovering that Alkaptonuria is an excellent model for understanding osteoarthritis – a very common disease – proving that Bateson was right.

3. We need to reform how traditional funders work. Traditional funding processes are often just form-filling exercises: if you tick the right boxes, lobby the right people and know how to fill in the form correctly, then you may get funded. Most traditional funders then provide grants for one to three years, forcing scientists to spend their time scrambling around for more funds rather than focusing on scientific research.

Traditional funders miss out the most important criterion in the success of any project: the strength and track record of the research team. And the only way to assess a team is by spending time with them – lots of time.

Fortunately, there is an answer to this. It’s called venture philanthropy. It’s based on how venture capitalists choose companies to invest in. They spend a lot of time on their due diligence: meeting the team, assessing their track record, discussing their strategy. And once they’ve found a team of A-players, they support it over a long period of time. Not a one or even a three year grant, but sometimes up to 10 years or more. Venture philanthropists know that persistence and commitment pays off.

That’s what we’ve done with the AKU Society. We’ve raised £1m in donations from private sources, and we’ve invested all of it in an amazing research team in Liverpool, going from the most basic to the most clinical science. Over the past eight years, we’ve developed a symbiotic relationship with them, where we all work together for the same objective: finding a cure to Alkaptonuria.

If you want to find out more about venture philanthropy, check out the European Venture Philanthropy Association: http://evpa.eu.com.

4. We need independent funders dedicated to rare diseases. There’s an urgent need for a major foundation dedicated exclusively to funding research into rare diseases and supporting rare disease patient groups. We need something as ambitious as Cancer Research UK, which raises £0.5bn each year from the public for cancer. We need a Rare Disease Foundation that will support any rare disease – not just a small subset or those of its founders – over long time periods, using a venture philanthropy model, and with a focus on finding cures. It needs to be independent and free from political or corporate influence. It needs to exist for patients and only for them.

5. We need to support existing international initiatives on rare diseases and use these to lobby our national governments. Thanks to the work of groups such as Eurordis and NORD, the European Commission and the National Institutes of Health are leaders in supporting rare disease research. For instance, the EC’s FP7 health call that was announced this week has strong support for rare diseases. The International Rare Disease Research Consortium launched recently is another excellent initiative. However, compared to the scale of the need – the 7,000 rare diseases, most of which have no cure – it’s still a drop in the ocean. That’s why we need to build on these initiatives to get our national governments and funders to take action.

So that’s my five point plan. If you’re interested in discussing this further, do get in touch. My email is nick@akusociety.org or visit the AKU Guide for Rare Disease Patient Groups: http://akurarediseaseguide.wordpress.com.