Major European Project To Create New Knowledge Base Of Gene-Disease Relationships
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.
"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."
Specific project activities will include:
- Analysis of the genotype-phenotype field, to specify current needs and practices
- Development of key standards for the genotype-phenotype field
- Analysis of ethical aspects that need to be addressed regarding the managed data
- Creation of generic database components, services and integration infrastructures for the genotype-phenotype domain
- Creation of data search and presentation solutions for genotype-phenotype knowledge
- Facilitation of the transfer of data into research and diagnostic genotype-phenotype databases
- Building a major genotype-phenotype internet portal (a 'knowledge domain')
- Deployment of genotype-phenotype solutions to the community
- Innovative ways to address system durability and long-term financing
- Repeated system utility and validation pilots
The initiative - called Genotype-To-Phenotype Databases: A Holistic Solution (or 'GEN2PHEN' for short) - will be led by Professor Anthony Brookes at the University of Leicester (UK), and executed by 19 leading research institutions, including 17 European, one Indian and one South African institutes. The project is funded with 12 Million Euro awarded by the European Commission following a competitive call targeting this area of research in the recently initiated 7th Framework Programme for research and technological development.
The full list of participating institutions is:
- University of Leicester, UK
- EMBL-European Bioinformatics Institute, UK
- Fundació IMIM, Spain
- Leiden University Medical Center, Netherlands
- Institut National de la Santé et de la Recherche Médicale, France
- Karolinska Institute, Sweden
- Foundation for Research and Technology - Hellas, Greece
- Centre National de Génotypage, France
- Erasmus University Medical Center, Netherlands
- Institute for Molecular Medicine Finland, University of Helsinki, Finland
- University of Aveiro - IEETA, Portugal
- University of Western Cape, South Africa
- Institute of Genomics and Integrative Biology, India
- Swiss Institute of Bioinformatics, Switzerland
- University of Manchester, UK
- BioBase GmbH, Germany
- deCODE genetics ehf, Iceland
- PhenoSystems SA, Belgium
- Biocomputing Platforms Ltd Oy, Finland
University Of Leicester
A member of the 1994 Group of universities that share a commitment to research excellence, high quality teaching and an outstanding student experience.
- Ranked top for student satisfaction in England (jointly with Oxford) among mainstream universities (average score of 4.4 out of 5 for overall satisfaction)
- Ranked as a Top 20 university by The Sunday Times University Guide, The Guardian University Guide and the UK Good University Guide
- One of just 23 UK universities to feature in world's top 200- Shanghai Jiao Tong International Index, 2005-07.
- Ranked in top 200 world universities by the THES (Times Higher Education Supplement)
- Short listed University of the Year in 2007 by The Sunday Times and Short listed Higher Education Institution of the Year - THES awards 2005 and 2006
- Ranked top 10 in England for research impact by The Guardian
- Students' Union of the Year award 2005, short listed 2006 and 2007
Founded in 1921, the University of Leicester has 19,000 students from 136 countries. Teaching in 18 subject areas has been graded Excellent by the Quality Assurance Agency- including 14 successive scores - a consistent run of success matched by just one other UK University. Leicester is world renowned for the invention of DNA Fingerprinting by Professor Sir Alec Jeffreys and houses Europe's biggest academic Space Research Centre. 90% of staff are actively engaged in high quality research and 13 subject areas have been awarded the highest rating of 5* and 5 for research quality, demonstrating excellence at an international level. The University's research grant income places it among the top 20 UK research universities. The University employs over 3,000 people, has an annual turnover of £184m, covers an estate of 94 hectares and is engaged in a £300m investment programme- among the biggest of any UK university.
University Of Leicester
Major European de proiect pentru a crea noi Baza de cunoºtinþe Din Gene-Bolilor Relatiile - Major European Project To Create New Knowledge Base Of Gene-Disease Relationships - articole medicale engleza - startsanatate