European Researchers Unite to Analyze Rare Diseases

Researchers in Europe are coming together to find answers for people living with rare diseases that haven’t yet been formally diagnosed.

In a June 1 news announcement, Solve-RD announced that hundreds of rare disease experts are sharing their expertise and data in an effort to diagnose more patients.

“For the first time in Europe, hundreds of rare disease experts, including researchers from the Tübingen Institute of Medical Genetics and Applied Genomics and the Neurological University Hospital, team up to actively share and jointly analyze existing data from unsolved rare disease patients,” the announcement said. “The Solve-RD project published a series of papers in the European Journal of Human Genetics describing the new approach and the structures established to warrant best exchange of expertise.”

Data scientists, genomics experts, clinicians and geneticists are among the professionals participating in the project.

Solve-RD pointed out that despite the “rare disease” name, an estimated 30 million people in Europe — one person in 2,000 — have a rare disease due to the vast number of rare diseases that exist.

The group estimates that more than 70 percent of rare diseases have a genetic cause.

“Getting a diagnosis can be a long and arduous process,” the announcement noted. “Some patients spend months, years, or even their entire lives without receiving a proper diagnosis and corresponding therapy. Around 50 percent of patients with a rare disease remain undiagnosed, even in advanced expert clinical settings where Whole Exome Sequencing is applied routinely as a diagnostic approach. The main ambition of Solve-RD is to solve unsolved rare diseases for which a molecular cause is not yet known.”

Through sharing and reanalyzing data, Solve-RD has already diagnosed 255 patients from approximately 4,500 families. For more information on the group, visit www.solve-rd.eu.

About the Author

Laurie Watanabe is the editor of Mobility Management. She can be reached at lwatanabe@1105media.com.

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