June 1 (UPI) -- Doctors and medical researchers in Europe have undertaken a massive data-sharing project they hope will aid the diagnosis of rare disease.
In a series of papers, published Tuesday in the European Journal of Human Genetics, researchers demonstrated how reanalysis of genomic and phenotypic data from patients with rare diseases -- when combined with wide-scale data sharing -- can increased the odds of accurate diagnosis.
An initial reanalysis of data from 8,393 patients yielded 255 new diagnoses, with several of the patients diagnosed with atypical manifestations of known disorders.
Rare diseases will affect roughly 30 million people in Europe over the course of their lifetimes. Approximately 70 percent of rare diseases are caused by genetic variants.
Even after extensive consultation with specialist physicians, more than half of patients with rare diseases remain undiagnosed, but the researchers hope the new data-sharing effort will shrink that number.
In an addition to an introductory paper, providing an overview of the data-sharing and genomic analysis approach, researchers detailed four distinct case studies involving the successful diagnosis of previously unsolved rare disease cases.
In one case, researchers discovered a new genetic form of pontocerebellar hypoplasia type 1, a disorder that impacts the development of the brain. Data analysis revealed a fifth gene mutation that causes the disease.
In another case, researchers were also able to link a novel mitochondrial DNA variation with a rare neurodevelopmental disorder. They suggest the diagnosis will help the patient receive proper treatment, as well as understand the risks of passing on the genetic variant.
Researchers plan to continue building out the new database and offer greater access to doctors and medical researchers across Europe.
The growing platform features anonymized genomic data and clinical information from thousands of patients with rare diseases.
"Solve-RD has shown that it is possible to securely share large amounts of genomics data internationally for the benefit of the patients," study co-author Sergi Beltran said in a press release.
"The work we are publishing today is just the tip of the iceberg, since many more patients are being diagnosed thanks to the innovative methods developed and applied within Solve-RD," said Beltran, co-leader of the Solve-RD data analysis effort.
There's some good news living with the uncertainty of an undiagnosed rare disease, researchers said.
Every year, medical researchers are identifying 250 new gene-disease associations and 9,200 variant-disease associations -- the authors of the latest papers and case studies suggest the Solve-RD will bolster those numbers.
The partnership responsible for the maintenance and growth of the new database includes 300 researchers and clinicians in fifteen different countries across Europe.
As the data-sharing efforts explained, researchers said they expect to accurately diagnose upwards of 19,000 unsolved cases of rare diseases caused by a yet-identified genetic variation.