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 TERMINÉ 
Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data and disease types. Individual efforts have little interoperability and almost no systematic connection between detailed clinical and genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Con ...
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 TERMINÉ 
EuroGentest is an FP6 European network for the harmonization of genetic testing and for the further improvement of quality in genetic services across Europe.This proposal is to support EuroGentest2, a Coordination Action that will cover the different aspects of quality assurance of genetic practice and has all the ingredients to fulfil the needs. EuroGentest2 will be concerned with setting the tar ...
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 22

 TERMINÉ 
"Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze ...
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 12

 TERMINÉ 
"European Centres of Expertise Networks for rare diseases have been identified by the European Commission as one important area of future activity in the attempt of achieving one of the main objectives across the EC endeavour of “Optimising the delivery of health care to European Citizens”. It is obvious that especially in rare diseases the joined forces of the experts networking throughout Europe ...
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