Health

15 Apr 10

A UK research group dedicated to work on a rare genetic condition that turns muscle to bone will be established thanks to a donation that takes the University of Oxford’s fundraising campaign, Oxford Thinking, past the £800m mark.

Richard Simcox chose to donate to Oxford University because it is the only institution in the UK which researches fibrodysplasia ossificans progressiva, or FOP.

FOP is a progressive disease in which new bone forms in muscles around bones and joints in the body. It is a very rare condition with no cure. There are about 45 known cases in the UK. Patients become gradually more disabled as extra bone forms across joints, restricting movement and locking joints in place – sometimes in uncomfortable positions.

In FOP, the formation of new bone often follows inflammation as a result of injury or trauma. No one knows why inflammation or ‘flare-ups’ in FOP patients leads to bone formation. And immobilised joints can’t be released – any surgery would exacerbate the condition. The only treatment – other than trying to avoid injury – is corticosteroids, which appears to help in the early stages of FOP. It doesn’t stop progression of the disease but may ameliorate the condition.

Richard Simcox’s donation, via his company Roemex Ltd, will fund the first dedicated UK programme to study the gene responsible for FOP and how drugs can be developed to halt or prevent the disabling bone formation. He has given £110,000 towards two postdoctoral positions working on FOP, and has guaranteed to underwrite the remaining £220,000 cost of the three-year research posts.

Marian Granaghan, mother of Seanie Nammock, 14, who has FOP, said: ‘The donation is great news. Every morning on the news there are unbelievable breakthroughs in the field of genetics. The research at Oxford offers a chance there might be one in FOP in the future to help Seanie and others affected by FOP.’ Marian, Seanie, and their family and friends have separately raised £15,000 for Oxford research.

Richard Simcox is founder, managing director and main shareholder of Roemex, a firm based in Aberdeen that supplies speciality chemicals to the oil and gas industry. He is also president of Action FOP UK, a forum for those with the condition.

He hopes that his donation will raise awareness of the rare condition and stimulate further gifts and fundraising efforts. He says: ‘I am delighted to see something happen in FOP on these shores. At Oxford, we’ll be able to get something going, something real and tangible. Now that the gene for FOP is known, researchers can focus on looking for a cure.’

Professor James Triffitt of the Botnar Research Centre at Oxford University, who researches FOP, says: ‘It is very difficult to get research grants to study rare diseases, so the generosity of individual donors is what keeps work like this going.

‘This donation will make a great difference. It will create a research nucleus in Oxford to understand the changes that occur in FOP and search for potential therapies. Without it, it would be impossible to have this intense research activity on FOP, one of the most disabling conditions that any patient can get.’

In 2006, Professor Triffitt and colleagues at Oxford were part of an international collaboration that identified the gene responsible for FOP. In FOP, a mutation turns the gene on which leads to the unwanted bone formation.

Marian Granaghan and her daughter Seanie Nammock, who suffers from FOP.

Since the gene was identified, there has been significant research progress. The gene encodes a protein which is involved in a number of processes in cells in the body that eventually lead to bone formation. It has been shown in mice that it is possible to stop the action of the protein. The two new researchers at Oxford will start projects to understand the structure of the protein, how drugs can be best designed to stop its action, and carry out the cell biology necessary to test whether any new, early-stage drug candidates are working in the right way.

Dr Alex Bullock of the Structural Genomics Consortium at Oxford University, who will be supervising the new research projects along with Professor Triffitt, explains: ‘The difficulty is that the protein involved is only one of 500 similar proteins in humans, and we want to affect this one and only this one. That’s the challenge.’

Oxford Thinking: The Campaign for the University of Oxford is the largest fundraising campaign in European university history, with a goal of a minimum of £1.25 billion to support world-class research, teaching and facilities. The donation takes the Oxford Thinking campaign over £800m, under six years after fundraising began.

Professor Andrew Hamilton, Vice-Chancellor of Oxford University, says: ‘Richard Simcox – like so many other generous donors – identified Oxford as the best place to address the challenge that mattered to him: finding a cure for a devastating disease.

'His generosity takes our fundraising campaign past the £800m milestone, and this funding will allow us to invest in a whole range of research that tackles the pressing needs of the 21st century and advances human knowledge. It will also help support and teach the brightest minds of the next generation.'

Those wishing to donate to FOP research at the University of Oxford can go to http://www.giving.ox.ac.uk/academic_departments/medical_sciences/fop_research.html

Research could benefit those with FOP

The FOP research now being funded could end up benefiting people like Seanie Nammock, 14, of West London.

Seanie Nammock is 14 years old. She likes make up, clothes and loves cooking. She listens to Lady GaGa, Beyonce, and Lily Allen and is to be a bridesmaid at her cousin’s wedding. She’s done one of her Science GCSEs two years early and dreams of being a vet.

In the summer of 2008, Seanie had a minor accident on a trampoline. A couple of weeks later, a large lump developed on her back. After a lot of going back and forth to the hospital, she was diagnosed with FOP in September 2008.

Seanie says, ‘When I was eventually told what my condition was and what the outcome could be, I just thought “Oh well, I just have to get on with my life and I won’t let it stop me from doing what I want.”’

Her neck now has little movement and her left and right arms have locked, restricting what she is able to do.

‘I can’t brush my hair and style it anymore, and my mum is pretty rubbish at doing it!’ says Seanie. ‘My mum also helps me to get dressed.

‘Sometimes I do get fed up when I can’t do things but it normally doesn’t last too long. You just have to find ways around things or just ask for help.’

Marian Granaghan, Seanie’s mum, describes how she felt when they received the diagnosis of FOP: ‘I felt numb. I just went onto autopilot. The hurt and grief was indescribable – it was a pain worse than anything I’d ever felt in my life.

As time has passed, she says she’s gained more acceptance of the situation. ‘Our lives have changed, so we have to get on with it as best we can. We live for each day and I try not to think too much about the future.

‘Seanie on the other hand has been amazing and accepts this has happened to her. She feels she should be able to do whatever she can for herself, and she keeps telling me “You have to let me get on with things, if I want help I’ll ask for it.”’

Like many people affected by FOP and their families and friends, Seanie and Marian have focussed on raising awareness of FOP and raising funds for research at Oxford University. They talked about their story in the media in April last year and they have succeeded in raising £15,000 for Oxford.

Marian says, ‘I am constantly thinking of things we can do or people we can contact to raise money for research, because this condition is so rare it is down to the families and friends to help raise funds so research can be ongoing.

‘This is my dream: one day there will be a cure or, if not a cure, a tablet that stops bone growth. This would mean that Seanie and everyone affected with FOP can be operated on and the excess bone taken away to get their movement back.’