A recent conference in Venice focused on the importance of mice in researching human disease, writes Sylvia Thompson
Researchers from universities and biomedical research centres throughout Europe met in Venice, Italy, in October to discuss ways of advancing projects aimed at understanding the complex expression of human genes at different stages in life. The aim is to identify genetic markers of disease processes with the knowledge that up to 5,000 human diseases have a genetic component.
Currently, scientists have some knowledge of the function of almost half of human genes identified on the human genome sequence, using model organisms such as mice, zebra fish, rats and flies.
Over the past few years, the mouse has become the most studied animal model, principally due to the fact that a mouse carries 99 per cent of the same genes as humans. With more and more research projects focused on finding out the function of genes in mice and humans, scientists now believe that these are the only two mammalian genome sequences that will be completed in terms of knowledge about gene function.
"Mice have a unique genomic tool kit in terms of the engineering you can do on their genome," explains Ewan Birney, an English researcher working on BioSapiens, a European network for integrating research findings on the gene function in humans and mice.
"You can remove a gene, put in a new gene, flip a chromosome around, delete a region [of chromosomes] and knock out genes. And in terms of applications to human disease, the same genes are involved in the same processes in mice and humans," he says.
Since 2002, 15 European collaborative projects using the mouse as a model to understand gene function in human health and disease have been granted €135 million of EU funding. This represents between eight and nine per cent of the entire research budget for health in the European Commission.
"This is a long-term effort that will take up to 10 years before the direct applications in health with be available. However, starting these investigations now is important for feeding in the pipeline of knowledge necessary for the translation approach into therapeutic applications," Jacques Remacle, scientific officer at the European Commission, told The Irish Times.
The task of investigating the function of all human genes through research into mouse genetics is a huge one. Many of the researchers attending the Venice conference were there essentially to share information about their research findings and find ways of accessing the findings of other researchers through elaborate collaborative projects.
Many of these projects are developing new tools for testing gene function, new data collection technologies and web-based dispersal of research findings, allowing free access to findings to other researchers. For instance, Yann Herault from the Centre National Recherche Scientific (CNRS) in Orleans, France, is keen to have access to as much data on gene function as possible to advance his work into Down syndrome.
Other projects are using mouse models to investigate the function of key genes involved in biological processes such as hearing, muscle formation and kidney function.
Already, there are some promising results. Christine Petit, the lead researcher on Eurohear, a project investigating the hearing mechanisms of the inner ear (the genetic and molecular mechanism underlying hearing impairment) won the Bristol-Myers Squibb Freedom to Discover Award for distinguished achievement in neuroscience research earlier this year.
Petit, who is the head of the Unit for Genetics of Sensory Deficits at the Institut Pasteur in Paris, isolated the genes responsible for 16 different forms of deafness, which has advanced our understanding into how sound is transformed into biological signals so that we can hear.
She also found that a defect in just one gene accounts for almost half of all cases of congenital childhood deafness. This discovery has led to improvements in the quality of genetic counselling for deaf people and their families.
The aim of the researchers working on the European Renal Genome Project is to identify new genes involved in kidney development and diseases. Another project, Lymphagiogenomics, aims to discover the genes involved in the development of the lymphatic system.
"New biological approaches to immunological disease could be a reality in between five and 10 years' time," says Georgios Kollias from the Alexander Fleming Biomedical Sciences Research Centre in Vari, Greece.