Huge cross-discipline gene study leads to breakthroughs and calls for more collaborations, Olga Wojtas writes.
This week sees the publication of the results of the £9 million Wellcome Trust Case Control Consortium, a pioneering venture that has united 50 leading research groups and 200 scientists from across the UK to study the genetics behind common diseases.
The findings, reported in Nature and Nature Genetics , are better than anyone had dared hope: more than ten genes predisposing people to ailments such as heart disease and diabetes were discovered by analysing 500,000 genetic variants from each of 17,000 volunteers.
Peter Donnelly, chair of the consortium and professor of statistical science at Oxford University, said: "I think it heralds a whole new approach to genetic studies. It's a breakthrough in the sense that we've done the biggest experiment of that kind, and it's worked."
Mark Walport, director of the Wellcome Trust, said: "It illustrates the powerful role a funding agency can play as a catalyst in getting the science to happen."
Dr Walport said Wellcome usually received relatively small grant applications to study a few hundred patients with a specific disease. "And they usually come with a note: "Please don't send this to my competitors to referee." We said the only way we'll fund this is if you work with competitors."
But Professor Donnelly said researchers had moved willingly from competition to collaboration because of Wellcome's encouragement and the chance to work with a huge sample, which also created economies of scale as different groups analysed the same dataset.
The different groups mostly managed themselves as principal investigators and liaised with a small central management committee that met through fortnightly conference calls. "This certainly isn't a one-off," Dr Walport said. "I think consortia are an important way forward, although not the only one."
'IT'S BEEN ONE OF THE MOST STIMULATING EXPERIENCES OF MY ACADEMIC LIFE'
Andrew Hattersley, Peninsula Medical School, Exeter, joint lead researcher for type 2 diabetes
"It's the most exciting science I've been involved with. The amount of hours people put in was phenomenal, but it was all related to the excitement of what we were doing. People were working up to Christmas Eve; the rest of the the department was deathly quiet, but (we) were analysing between Christmas and New Year.
"The major challenge was that nobody had done this before, so you had to go in with new ideas and be prepared to learn from other people.
It also removed the natural order of institutions to some extent. There was no reason why Exeter couldn't be on an equal footing to Oxford and Cambridge universities."
Panos Deloukas, Wellcome Trust Sanger Institute, quality-control checking for sequencing and genotyping
"Everyone had to bring his personal ego down a little bit. The consortium is making its own data and analysis available to the community.
You're bringing so many different experts together that you can also see progress in developing new tools for analysis."
Nick Craddock, Cardiff University, principal investigator for bipolar disorder
"It's really vital to have large numbers of people coming together to work in a collaborative way."
"No one individual group is likely to have the skills, but this brings together top statisticians, technicians, disease groups. It can be tricky working with the different disciplines; but in any large scientific endeavour, it's inevitable and you just have to keep talking things through."
Nilesh Samani, Leicester University, principal investigator for coronary heart disease
"It's been one of the most stimulating experiences of my academic life. I come from a clinical academic background, and it was fantastic to work with a group of extremely talented basic scientists.
"It didn't take long for the people who drove this initially to get people interested.
"When I was approached, I could see the potential immediately, and I think the younger staff learnt a huge amount from the study we've done, interacting with very good people across the whole of the UK."
Mark McCarthy, Oxford University, joint lead researcher for type 2 diabetes
"So much depends on individual publications. It's all right for me, but it can be very difficult for junior investigators to get due credit when you're 34th in (a list of) 150 (authors of a paper).
"We've been working in ever-growing consortia for the past few years in recognition of the size of the challenge. I think we'll see even larger collaborations in the future."
Jane Worthington, Manchester University, principal investigator for rheumatoid arthritis
"It was a fantastic opportunity to interact with scientists from a number of fields. One can learn a lot from people who are interested in a parallel way.
"For rheumatoid arthritis, the data we have gives us a new focus of research in terms of trying to find a new susceptibility marker.
Already I have had contact with people who have ideas about new things to do, helped by the data. There are new collaborations and new studies arising out of it."