New EU project to develop catalogue of genetic variation
Creating a catalogue of genetic variation and its impact on our health is the goal of the EU-funded GEN2PHEN (Genotype-to-phenotype databases: a holistic solution) project, which has just got underway under the Seventh Framework Programme (FP7). Our genes affect our health in a number of ways. Small differences in a given genetic sequence can affect how susceptible we are to certain diseases or conditions, or how we respond to certain drugs. Major gene mutations involved in disease development were first discovered in 1949. However, for many common diseases and conditions, unravelling the contributions of small variations in our genes and environmental factors to the disease process is extremely difficult. 'Technologies for the exploration of genetic variation in 'common' disorders such as diabetes, heart disease, obesity, and autoimmune states, have only been devised in the last few years, with widespread deployment only now happening,' explained project coordinator Professor Anthony Brookes of the University of Leicester, UK. 'An unprecedented torrent of exciting, valuable, and important research observations is therefore now arriving, and yet there is no universal internet-ready system able to receive all these data, to store and combine them, and to make them available for researchers and doctors alike to evaluate and exploit.' The GEN2PHEN project will oversee the collection and use of data from research from around the world investigating the links between genetic variation and health. The project partners will develop database components, tools and technologies that will ensure that all relevant research results can be properly integrated and made available via an online portal called the 'GEN2PHEN Knowledge Centre'. Powerful search capabilities will permit researchers and doctors to access and make use of the very latest research in their field. In addition to this, the project will identify current needs and practices in the genotype-phenotype field. The ethical aspects relating to the data will also be investigated, and the project partners will look into ways of ensuring the durability and financing of the Knowledge Centre in the longer term. 'The progress made should provide maximal utility with global relevance, be highly durable, ensure effective education and training in the field, and meet with the highest possible standards of ethical and social responsibility,' commented Professor Brookes. The EU is contributing €12 million to the initiative from the Seventh Framework Programme (FP7). The 17 partners come from across Europe as well as India and South Africa. 'The various GEN2PHEN project members bring with them deep connections into the few other major international projects in this area, promising globally-coordinated progress over the next few years towards far more comprehensive, useful, and accessible knowledge regarding the genetic basis of human existence,' said Professor Brookes. 'The medical and societal benefits from all of this should be immense.'