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New diagnostic tools, treatment for rare diseases

Published: 25 January 2013

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale… Today, the EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases… The International Rare Diseases Research Consortium (IRDiRC), under which these new grants have been awarded, aims to accelerate research into rare diseases. Professor Paul Lasko of McGill University in Montreal, 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 genetic causes of diseases and help identify new ways to create targeted therapies".

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