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EU fuels rare diseases research
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EU fuels rare diseases research

28.01.2013 - The European Commission has kicked off four projects, worth €38m, to improve diagnosis and therapy of rare diseases.

According to the University of Manchester, the European Commission has announced the €38m funding in Barcelona. The money will be channelled into four projects over the next six years: the EURenOmics project aims at identifying genetic and epigenetic roots of rare kidney disorders. It is funded with about €12m and will be coordinated by Heidelberg University Medical Centre, Germany. The Neuromics consortium, which was kicked off last November with funding of almost €12m, will look after biomarkers for rare neurodegenerative and neuromuscular disorders using next generation whole-exome sequencing.  It is led by the University of Tübingen, Germany. Coordination is high on the agenda of the RD-Connect project led by Newcastle University, UK. Funded with around €12m it aims at developing a global infrastructure to share the -omics data of rare disease projects from 70 institutions.  Finally, a communication project called SUPPORT-IRDiRC led by INSERM, France, will receive about €2m.

Orphan diseases have been more and more in the focus of biopharmaceutical companies because they promise fast-track approvals, long market exclusivity and high reimbursement. All projects are part of the International Rare Diseases Research Consortium (IRDiRC). That joint initiative was launched in 2011 to improve diagnosis and treatment of orphan diseases, by identifying the underlying genetic defect through genomics tools. The initiative aims at pooling data and expertise around the world to standardise research. 

Around 80% of the known rare diseases have a genetic component.  The researchers hope to solve the challenge of identifying disease biomarkers by using Next generation sequencing, which allows identification of mutations in a complete set of human genes for several thousands of euros within ten days and subsequent data analysis.  Professor Paul Lasko of McGill University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee, explained: "IRDiRC's goal is to reach 200 new rare disease therapies, and diagnoses for all rare diseases, by the year 2020. To this end, it is today launching three major projects which will combine international genetic data with clinical information and data on biomaterials to help interpret the vast amounts of data the genome yields. This will aid scientists in the search for the genetic cause of diseases and help identify new ways to create targeted therapies". Approximately 30 million people across Europe are affected by a rare disease. 

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