European Union plans big investment in global collaboration on rare diseases

Plan includes central hub for sharing genetic research
Tools

The European Union has announced that it will invest 38 million Euros (more than $50 million) in global research projects to develop new diagnostic tools and new treatments for people with rare diseases.

The uncommon occurrence of these diseases--affecting fewer than five people in 10,000--means there's little expertise locally to treat them, but they affect one person in 17 globally, and 80 percent of these diseases have a genetic component.

As part of the investment, a central disease hub involving 70 institutions will allow a crowdsourcing approach to research data sharing for genomic studies. With the price falling for genetic sequencing and the time it takes reduced to just days, the hope for personalized treatments grows closer, according to an announcement.

"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," Hanns Lochmüller of Newcastle University, U.K., who is leading the new central disease hub, said in the announcement.

Drugs being tested in clinical trials actually make changes in the patient's genes rather than just treating symptoms, which can made a huge difference in the patient's quality of life, Lochmüller said. With improved collaboration, more might be developed.

Grants are being awarded through the International Rare Diseases Research Consortium (IRDiRC), which has set a goal of delivering 200 new rare disease therapies and diagnosis for all rare diseases by 2020.

The U.K. recently announced plans to map the DNA of up to 100,000 citizens in an effort to better understand cancer and other rare diseases, though that plan has detractors, including the group group Genewatch, which says that through such a database, all those who participate could be identified and tracked.

Institutions in the United States including the Mayo Clinic and Children's Hospital Boston have recently announced partnerships allowing them to delve more deeply into gene sequencing to developing treatments for genetic diseases. And the University of Texas M.D. Anderson Cancer Center cited advances in gene-sequencing technology among the reasons it decided to launch an ambitious $3 billion project to combat eight forms of cancer.

To learn more:
- here's the announcement

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