Newsletter EU Genomics News
Newsletter no 4 - July 2005
Highlights of EU-funded fundamental genomics research
 
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MolPAGE consortium to search for diabetes biomarkers

Deciphering peroxisomes

Alternative Transcript Diversity (ATD) kicks off

Functional Genomics of The Retina In Health And Disease

 

 
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MolPAGE consortium to search for diabetes biomarkers

Diabetes and one of its major complications, vascular disease, will be tackled at the level of genes, proteins and other biomarkers by a new consortium led by Mark McCarthy and John Bell of Oxford University and uniting industry and academia.

The MolPAGE (Molecular Phenotyping to Accelerate Genomic Epidemiology) integrated project is funded by the EU to the value of €12 million over four years, and brings together 18 leading academic institutions, biotechnology and pharmaceutical companies in nine countries.


Diabetes is associated with a range of complications, including heart attacks, strokes, amputations and loss of vision. It is reaching epidemic proportions, with 5 to 10% of the adult populations in most developed countries suffering from the disease. It is even more prevalent in developing countries where it is likely to become a major source of ill health and premature death over the next decade.


The ultimate aim of MolPAGE is to identify biomarkers that highlight individuals likely to suffer from diabetes and vascular disease in the future, long before they show any of the symptoms, biochemical abnormalities or other features typically used in the diagnosis of these conditions. An early diagnosis of the disease or the identification of those at risk has the potential to generate more effective prevention programmes and better treatment of the disease.

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Deciphering peroxisomes

The EC has launched Peroxisomes, an integrated project designed to decipher the biological function of peroxisomes in health and disease. The Centre for Brain Research, Medical University of Vienna, coordinates the project, which is funded to the value of €8 million under FP6, and will run for four years.

Peroxisomes are cellular organelles that degrade hydrogen peroxide and are important for the detoxification of cells. Although peroxisomes are essential for life, the various functions and dynamics of this organelle in health and disease are poorly understood. Most inherited peroxisomal disorders in humans have a low incidence, but collectively they represent an enormous burden on affected individuals, families and society.

Leading scientists from 15 European research institutes and industry will now join forces in this scheme, which held its kick-off meeting in Vienna from 5 to 6 March 2005. They will contribute a wide range of expertise in molecular and cell biology, biochemistry, proteomics, metabolomics and bioinformatics, and embark on a common strategy to understand the biogenesis and function of peroxisomes.

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Alternative Transcript Diversity (ATD) kicks off

ATD is a STREP funded in the ‘Life sciences, genomics and biotechnology for health’ thematic area. It includes eight partners in six countries and has a budget of € 2.3 million years over three years.

The goal of the ATD consortium is to understand the mechanisms that are responsible for the formation of mRNA transcript isoforms on a genome-wide scale, by creating a database of alternate transcripts from human and model species.

Production of mature mRNA transcripts in vertebrates is regulated at three stages: transcription initiation, splicing and polyadenylation. The combinatorial arrangement of variations at each stage generates, from a single gene, a variety of mRNA isoforms, and expression of alternative transcripts (AT) has been observed to be specific to tissue-type or developmental stage.

Disruptions in expression patterns have serious consequences for an organism and are associated with numerous diseases, including cancer, multiple sclerosis, heart failure and neurodegenerative disorders. S tudies on ATs are expected to become a major research area, with direct applications for the pharmaceutical industries, including improved diagnosis and identification of new drug targets.

The specific goals of the project are: (i) to develop new bioinformatics tools to accurately identify all types of ATs, identify novel tissue/disease-specific transcripts, and delineate sequence elements that regulate expression of ATs; and (ii) to validate experimentally expression of transcript variants associated with specific diseases or tissues.

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Functional Genomics of The Retina In Health And Disease

EVI-GenoRet, a 10 Million Euro Integrated Project (IP) dedicated to retinal research, has been officially launched on April 1st, 2005. The consortium composed of 24 legal entities is coordinated by the European Vision Institute (EVI). Prof. J. Sahel (Paris, France) is in charge of the scientific coordination of the project.

This IP, spanning from the biology of seeing to the fight against retinal blindness, will implement an accurate clinical and molecular classification of disease, identify novel retinal genes and pathways and define the context dependent functions of these genes in normal and degenerating tissue. They will employ transcriptome, proteomics, protein-interactome analyses, functional cellular and biochemical assays, bioinformatics and model organisms to analyse patterns of gene expression and gene function in retinal development, normal function and degeneration. The unique knowledge base of molecular networks generated in this way will facilitate identification and validation of novel therapeutic targets.

EVI-GenoRet will lead to the integration of unique data resulting from population genetics, clinical and experimental phenotyping, biology of development, as well as functional genomics. At the end, a successful integration of these data in a new type of database will provide clues to systems biology of this complex organ.

The success of EVI-GenoRet will depend on the implementation of a system of Quality Assessment (QA) for standardised procedures for clinical as well as for experimental operations. This, as well as common workflow and data management systems, is an essential prerequisite for successfully running such a large integrated project.

http://www.evi-genoret.org

info@evi-genoret.org

 
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