Impressive advances in our understanding of the genetic basis of disease were outlined at the 3rd ESF Functional Genomics Conference in Innsbruck, Austria.
The mysteries of the human genome are slowly being revealed - but the more we uncover the more complicated the picture becomes. This was one key message to emerge from the European Science Foundation (ESF)'s 3rd Functional Genomics Conference held in Innsbruck, Austria, on 1-4 October.
Functional genomics describes the way in which genes and their products, proteins, interact together in complex networks in living cells. If these interactions are abnormal, diseases can result. "The human genome is just a string of letters which has to be interpreted so that we can understand the function of the genes," said Mike Taussig of Babraham Bioscience Technologies in Cambridge, UK, who organised the conference, which focused on the role of functional genomics in disease.
More than 450 scientists from across Europe were told of new developments in research ranging from pinpointing genes involved in diabetes and cancer to using the genetic sequences of different breeds of dog to throw light on human diseases.
"What we have tried to do is bring together genome knowledge as it is now, the work which has been done, what it means in functional terms and where it affects our susceptibility to disease," Taussig said. "Conferences like these are important because we try to cover a broad field - there are so many aspects of genomics that it would be impossible to encompass everything in a single lecture. It is very useful for researchers who want to improve their general view of the field, because when you are immersed in one specialty you often do not appreciate how well connected everything is."
Dr Patrik Kolar, head of the unit for genomics and systems biology in the European Commission's research directorate, said, "Functional genomics and systems biology is an important and integral part of our health research programme because an understanding of these basic biological processes has huge potential and real applications for understanding disease, and when you understand disease you can design new drugs."
Dr Kolar added, "This kind of conference is one of the things that brings together the European community in functional genomics and I am really happy to see that most of the participants are from collaborative projects funded though our Framework programme."
The unexpected complexity of the role of genes in disease was illustrated by Professor Mark McCarthy of the University of Oxford in the UK, who is searching for genes involved in type 2 diabetes. Here, so-called genome-wide scans, which compare the genetic profiles of healthy people with those who have the disease, have so far revealed around 20 individual gene mutations that can be present in people with type 2 diabetes. However, these variants explain only a small proportion of people's overall susceptibility to the condition. "If you look at the variants we are finding from really large sample sizes, the effects are pretty small," McCarthy told the conference. "For diabetes, weight and age are still better predictors of risk than the gene profile. So on the one hand we are happy that we have found more signals that we might have imagined, but on the other hand we are disappointed because we are explaining so little of the variance. There is much work to be done to turn these association signals into function and mechanism."