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Page last update: 25/12/2008

Europe to develop catalogue of genetic variation

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 particular drugs. Major genetic mutations responsible for the development of disease were first discovered in 1949. However, for many common diseases and conditions, unravelling the effects of environmental factors and minor variations in our genes on our health, remains extremely difficult.

The EUR 12 million 'GEN2PHEN' project, funded by the European Commission, aims to harness the web to capture and unify genetic information that fundamentally impacts on a person's health and disease processes. A large integrated genetic variation catalogue will be developed to give researchers valuable information in the battle against disorders such as diabetes, obesity, heart disease and cancer.

Genetic impact on our health

Lead scientist Professor Anthony Brookes, from the University of Leicester's world-renowned Department of Genetics said, 'Technologies for the exploration of genetic variation in common disorders such as diabetes, heart disease, obesity, and autoimmune states have only been devised within the last few years, with widespread deployment only happening now. An unprecedented stream of exciting, valuable, and important research observations is therefore now available, 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.'

'It has been estimated that 60% of all humans will be affected in their lifetime by one or more 'major' gene mutations that they inherit in their DNA. Moreover, myriad 'minor' genetic variations that we carry from birth, and which distinguish individuals, will fundamentally influence a person's health and susceptibility or resistance to disease processes, in interaction with environmental factors. Cancer brings an additional consideration, with its onset and progression being highly dependant upon genetic changes that occur in our bodies during our lives.'

Building a Knowledge Centre

The GEN2PHEN project plans to orchestrate the international electronic gathering and use of data that show how gene sequences (genotypes) contribute to inter-individual differences in disease, drug response, and other characteristics (phenotypes). These relationships (usually in the form of genotype-phenotype information stored in scattered databases) are deemed to become essential for future prognosis, diagnosis and treatment of diseases.

GEN2PHEN will build a set of database components, tools and technologies that will help all research results pertaining to genome variation and disease to be properly integrated and immediately available for holistic analysis via the Internet. The project will deploy a major Internet portal, called the 'GEN2PHEN Knowledge Centre', which will prominently profile the solutions generated by the project and set these in the context of powerful search capabilities for genotype-phenotype data and the very latest expertise on genotype-phenotype databases.

Professor Brookes underlined, '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. 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. The medical and societal benefits from all of this should be immense'.

For further information:
Project Coordinator - Prof. Anthony J. Brookes

University of Leicester

Last update: 25 December 2008 | Top