The Centre Nacional d'Anàlisi Genòmica (CNAG) –based at the Barcelona Science Park– is one of the 70 European centers that is taking part in the most emblematic projects ran by the International Rare Diseases Research Consortium (IRDiRC) that were started this last January in Barcelona. The objective of these projects is to develop new diagnostic and treatment tools against rare diseases and to disseminate research data worldwide. This initiative- the largest collaborative effort to have ever been made in this field- and funded by the European Union with 30 million Euros-, was presented today by main representatives from the IRDiRC in an event organised by the CNAG, at the Camp Nou, FC Barcelona´s football stadium.

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The new IRDiRC projects in the fight against rare diseases are: EURenOmics (www.eurenomics.eu), focused on rare kidney disorders, Neuromics (www.rd-neuromics.eu), which addresses rare neurodegenerative and neuromuscular disorders, and RD-Connect (www.rd-connect.eu), that will develop a global infrastructure for sharing the research outputs of these and other rare disease projects.

Professor Paul Lasko of McGill University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee, explained: “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”.

The revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer. The genetic and epigenetic studies, using next generation techniques such as whole-exome sequencing (WES), will hopefully lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases. The Centre Nacional d’Anàlisi Genòmica (CNAG) will participate in RD-Connect by leading WP5 (Unified Platform) and will contribute to most of the other work packages.

Professor Hanns Lochmüller of Newcastle University, UK, who is leading the new rare disease hub, said: “Being able to sequence a person’s entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever.”

The International Rare Diseases Research Consortium (IRDiRC) aims to foster international collaboration in rare disease research, a highly challenging area of medical research that has the potential to benefit tremendously from the recent advances in genomics, proteomics and other omics technologies. IRDiRC has set itself the bold aims of delivering 200 new rare disease therapies and diagnosis for all rare diseases by the year 2020.

Spearheaded by the European Union, the United States National Institutes of Health and the Canadian Institutes of Health Research, the IRDiRC now numbers 29 member funding institutions across the world. This global collaboration between major research funders will ensure greater harmonization of rare disease research activities and lay the foundations for future networking that is essential to accelerate progress in the field.

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