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Europe Pumps $50M into Genome-based International Rare Disease Projects

NEW YORK (GenomeWeb News) – Four European research teams will use €38 million ($50.8 million) in funding from the European Union to harness genomic knowledge in developing new diagnostics and treatments for a range of rare diseases, Newcastle University said today.

Four new research programs were launched today by the International Rare Diseases Consortium (IRDiRC) that aim to use epigenetic, genetic, and whole-genome sequencing data to fuel development of these new applications.

Newcastle University, which will serve as a coordinator for these six-year IRDiRC programs, said the funding will support three multi-partner studies and will create a central global rare disease hub that will involve 70 institutions.

Taken individually, rare diseases are not common – affecting only about five out of every 10,000 people. There are as many as 8,000 different rare diseases, however, and cumulatively they impact one in every 17 people, and 80 percent of those diseases have a genetic component, according to the university. That makes genome-based medicine most promising for finding new or personalized ways to treat rare diseases.

IRDiRC hopes to develop 200 new rare disease therapies and diagnoses for all rare diseases by the year 2020, McGill University Professor and Chair Elect of the consortium's executive committee Paul Lasko said in a statement.

To that end, Lasko noted, the consortium today launched three projects that 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."

Leveraging that combination of genetic and clinical data is the key to pursuing the consortium's goals.

"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," Newcastle University Professor Hanns Lochmüller, who is heading the rare disease hub, added.

One of the new projects, called EURenOmics, will seek to identify novel genetic and epigenetic causes and modifiers of rare kidney disorders. The goal of this effort, to be led by Heidelberg University Medical Center, is to develop new rapid diagnostic tools, discover and validate disease biomarkers, and to develop in vitro and in vivo disease models that can be applied to high-throughput screening of drug candidates.

The partners in the Neuromics project, headed by the University of Tübingen, will use whole-exome sequencing to increase the number of gene loci that are known to be involved in rare neurodegenerative and neuromuscular diseases. They also plan to increase patient cohorts through large-scale genotyping, develop biomarkers for clinical application, identify disease modifiers, and develop targeted therapies for these diseases. The Neuromics network will include partners in the US, Canada, and Australia, as well as Europe.

Another project, called RD-Connect, will develop a global infrastructure for sharing the research data from these and other rare disease projects. Headed by Newcastle University, RD-Connect will enable scientists and clinicians around the globe to access a repository of 'omics, phenotype, and biomaterial information.

The new funding also will launch a project, Support-IRDiRC, that will support the implementation of the IRDiRC through collaborations with the European Commission, the US's National Institutes of Health, and funding agencies from participating nations. The Support-IRDiRC effort will be managed by France's Institute of Health and Medical Research (INSERM).