The 12 Million Euro '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.
As the heart of this, a large integrated genetic variation catalogue will be built to arm researchers with valuable information in the battle against disorders like diabetes, obesity, heart disease and cancer.
Lead scientist Professor Anthony Brookes, of 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 the last few years, with widespread deployment only now happening. 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.
“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. Major gene mutations that cause disease were first discovered in 1949, although it has only been possible to identify these in large numbers in recent decades. 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.”
The GEN2PHEN project plans to internationally orchestrate the 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 said: “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.