I’ve changed blog address. Go to: akurarediseaseguide.wordpress.com

February 25, 2011 Leave a comment

I’ve changed blog address. Please go to: akurarediseaseguide.wordpress.com. I’ve done this to change the angle of my blog in order to use it as a means of letting other rare disease groups learn from our successes and mistakes.

It’s now called the AKU Guide for Rare Disease Patient Groups.

Categories: Uncategorized

Raising funds for rare diseases

February 25, 2011 Leave a comment

As most rare disease groups will tell you, raising funds for our work isn’t easy, even at the best of times. In the middle of an economic recession, it’s downright tough. Nevertheless, I’m going to start sharing here on a regular basis some of the funders we have found that may support rare diseases.

I’m going to start this week with the Big Lottery Fund and Jeans for Genes:

Big Lottery Fund: the unsung hero of the rare disease movement, the Big Lottery Fund has supported many rare disease groups, such as the AKU Society and the Genetic Alliance UK, and is one of the few funders who truly appears to understand the marginalisation, isolation and challenges facing rare disease patients. Small groups can apply to Awards for All, which provides grants of up to £10,000 for one-off activities.

You can also apply to the Reaching Communities scheme, which provides up to £500,000 for multi-year projects. We received funding from Reaching Communities for our AKU Information Centre from 2007 to 2010. For scientific research, the Big Lottery Fund has a research grant scheme, although this is now closed and uncertainty remains around any future funding here. The Lottery has a very clear guidelines and a robust selection process – one of the best and most progressive funders out there.

Jeans for Genes: A traditional funder of rare genetic diseases, although highly competitive and with limited funding amounts (£25,000 per project and only a few projects approved each year). Nevertheless, Jeans for Genes is a strong brand and one worth being associated with if you get the chance.

Categories: Uncategorized

Five tips for setting up a growing patient movement

February 24, 2011 Leave a comment

I’ve been thinking recently about what the AKU movement has learnt in the past few years that is replicable to other rare disease patient groups. I’m convinced that the strength of the patient group is a crucial factor determining the chances of finding a cure for a specific rare disease. And my opinion is backed by research. Dutch researchers published last year in the journal Drug Discovery Today (Heemstra et al 2010) their findings looking at key criteria predicting success for finding treatments for rare diseases. Having a strong patient group was up there, right at the top.

We don’t yet have an authorised treatment for AKU, but we’re working on it, and we think we’re close. So here are some of the key things we’ve been doing:

1. Find the A players and recruit them to the team. People are the heart of everything. Excellent people = excellent results. From the start, we’ve worked hard at identifying and working with people we define as A-players: smart, hard working, committed, honest, open, team players, not egocentric, putting the patients first. These are the kinds of people we invite to join our international findAKUre alliance and that we recruit as staff and volunteers. These are the kinds of people that populate our science teams in Liverpool, Siena, Slovakia, Jordan, the US and across the world. These are the kinds of people who lead our patient groups in different countries.

If you’d like to find out more about how to identify A players, check out Topgrading. Developed by an American team of recruitment consultants, it’s revolutionised our approach and led to significant progress.

2. Engaging with all sectors: just the other day, I was speaking to a patient group and asking them how things were going. ‘Not bad,’ they said. ‘We had our annual fundraiser the other day and raised some money for patient support.’

‘Excellent,’ I said. ‘And what about finding a cure?’

They shrugged their shoulders. ‘Nobody’s interested.’

‘Why not? Are you engaging with industry, with scientists, with the regulators?’

They weren’t. And their case is common. Too few patient groups are engaging with the sectors that will drive forward the quest for a cure: scientists, industry and the regulators. With the recent massive surge in interest in orphan diseases, now is the best time to get out there, attend the conferences, fix up meetings, and speak to people. It’s the only way to create a movement.

3. Work closely with the umbrella groups. I have nothing but praise for groups such as EURORDIS. I’ve been singularly impressed by what they manage to achieve with their limited resources. EURORDIS works closely with its members, launching new projects such as www.rarediseasecommunities.org, advising informally on strategy, introducing us to networks. Not enough patient groups are building on all this help, yet it’s a massive boost to any effort for a rare disease group.

4. Use social media. Patient groups can now have a much bigger influence than previously thanks to social media, in order to get their message across. Blogging, Linked In, Facebook and other forms are cheap, accessible ways of creating online movements. We’ve recently created the following website grou.ps/findakure in order to bring together all our social media tools and create an online alliance of patients and scientists for AKU.

5. Grow internationally. Rare disease patients are everywhere, in all countries, all nationalities and all cultures. Unfortunately, most legal structures for charities are limited by nation. That’s why we’ve now set up AKU societies in France, Italy and North America (registered in the US, but also covering Canada). We’ll keep on expanding, registering new charities in new countries as soon as a core of patients, relatives, scientists and supporters appears. It’s the only way to keep growing, to become a credible movement and to have the numbers needed.

So those are the first five tips that come to mind. Watch this space for more to come…

Categories: Uncategorized

The Economist Pharma Summit

February 15, 2011 1 comment

We had a great day for AKU on Thursday. The Economist Conferences invited me to do a 30 minute presentation of the AKU story and the world of orphan diseases to 200 top executives from the pharma industry at its Economist Pharma Summit at a glittering hotel in Mayfair, London. I had the slot right after lunch, just when most people are dozing off and digesting, so I thought I’d hit them hard with a strong presentation on the urgency for finding cures to all these devastating rare diseases, using AKU as a case study.

I think it worked. I didn’t see anyone dozing off, and got positive feedback afterwards from participants ranging from senior executives of big pharma companies, who expressed a strong interest in collaboration, to news media and smaller businesses involved in healthcare. Now we’re following up these contacts as there’s always a huge gap between an expression of interest and actually delivering a real programme of research and a treatment.

The buzz from the Economist event has helped us overcome a number of disappointments on the fundraising front. We’ve just received seven rejections from major trusts and foundations over the past two weeks and one success (from Awards for All, the small fund that’s part of the Big Lottery Fund).

I’m pretty fed up with the world of most funding institutions – they’re dinosaurs, with long bureaucratic processes, endless forms to fill in, and anonymous committees who make decisions for funding without having much of a clue what they’re doing. If only they realised the burden of work they put on charities, which are forced to compete through ineffective processes for constantly smaller pots of funding.

I wish more funders would listen to the likes of New Philanthropy Capital, the think tank that is trying to get foundations to rethink their funding processes and strategies. They need to cut down on the bureaucracy and the form filling and really go out there to meet the social entrepreneurs who are making a big difference to their communities.

Categories: Uncategorized

An excellent day in Paris for AKU

February 7, 2011 1 comment

Hi everyone,

I’m just back from Paris, where we had an excellent series of meetings on Friday with the highly active rare disease community there. A real boost of inspiration and motivation.

We started the day on Friday with a meeting at the European Organisation of Rare Disorders (EURORDIS), one of the most impressive organisations I’ve ever met. We’re working on an online community project with them (www.rarediseasecommunities.org), which will be launched in the coming weeks on Rare Disease Day. It’s a place where AKU patients from all over the world will be able to meet, share experiences and provide further information on managing their condition.

We also discussed with them our plans for obtaining a licence for Nitisinone to treat AKU. They’ve got lots of experience in this area and know the European legal and regulatory framework like the back of their hand, so it’s great to have them on board for advice.

We had lunch with the AFM/Telethon – the powerhouse behind the global drive for rare diseases. Each year, the Telethon raises nealy 100m euros in funding just in France, which it then piles into research for rare diseases. Their president is a singularly motivated person who lives for rare disease patients. They showed us round their institute and offered to give any advice we need on how to design clinical trials, fundraising, research protocols.

We ended the day at the Hopital Necker in the centre of Paris, where Prof Pascale de Lonlay wholeheartedly accepted to include AKU in her metabolic reference centre. She’s been treating tyrosinemia patients for years so she has solid experience of Nitisinone and fully agrees with us that it’s the currently most promising treatment for AKU.

So the global movement for AKU is growing. Watch this space for further details soon.

Categories: Uncategorized

Calling all scientists: check out the slides from our AKU conference

February 1, 2011 Leave a comment

I’m pleased to say that the presentation slides from our speakers at the recent international AKU conference in Cambridge are now available for download here: http://www.alkaptonuria.info/en/news_85.php. I think you’ll be impressed by the content – all very high quality science.

We haven’t published all the presentations as some of the data is still confidential. It’ll all be published soon in prestigious academic journals, including the Journal of Inherited Metabolic Disorders, but until then, we can’t publish it elsewhere. Stay tuned…

Categories: Uncategorized

Rare Disease Day is approaching

January 24, 2011 Leave a comment

Hi everyone,

World Rare Disease Day takes place this year on 28 February. The US National Organisation of Rare Diseases has made tools available to all Rare Disease Day Partners.  You may download these and use them to support the World Rare Disease Day global goal of raising awareness of rare diseases as a public health issue.

Suggestions for Individuals

  • Become a Rare Disease Day Ambassador (View current list)
  • Tell your story
  • Create a video for the Video Library project (this will be activated very soon)
  • Support the Write Your Rep campaign
  • Write a blog or email your friends and family members
  • Organize a display at a local school or hospital
  • Buy Rare Disease Day merchandise, such as t-shirts and mugs, to help make people aware of the day
  • Watch the state-by-state listing, soon to be on the Rare Disease Day US website, and reach out to others planning events near you
  • Use Facebook and Twitter to raise awareness for Rare Diseae Day
  • Reach out to the media in your community to educate people about your disease of interest and rare diseases in general, using information from the press kit


Categories: Uncategorized

Get every new post delivered to your Inbox.