Data Sharing Allows for More Rare Disease Diagnoses

Diagnosis can be difficult to achieve for rare disease patients. Some patients experience years of searching for the correct diagnosis, with others receiving the wrong one along the way. Changes have to be made in order to improve the diagnostic landscape, one of which is collaboration and data sharing. In fact, rare disease experts have recently diagnosed many patients throughout Europe using data sharing on a massive scale. The full, six-paper series was published in the European Journal of Human Genetics. 


Many rare disease patients living in Europe were able to receive their diagnoses through an international consortium called Solve-RD. It consists of 21 academic institutions throughout Europe, along with a single academic partner from the US. The research project is funded by the European Commission (EC) until 2022, with the ultimate goal of “solving the unsolved rare diseases.”

More than 300 medical professionals originating from fifteen countries comprise the research initiative. As a group, they meet with over 270,000 rare disease patients annually. In the end, they hope to give the correct diagnosis to at least 19,000 patients.

Diagnosing Rare Diseases

The papers published on Solve-RD’s work state that reanalyzing genomic and phenotypic data periodically and sharing that information across borders will help to better understand and possibly diagnose the conditions of rare disease patients. Through this approach, they have already been able to diagnose 225 patients and analyze the data of 8,393.

One rare disease that has been accurately diagnosed using this method is pontocerebellar hypoplasia type 1 (PCH1). Not only have these medical professionals provided a patient with the correct diagnosis, but they were also able to identify another gene variant that causes PCH1 as well. The researchers are able to better understand this rare condition and others like it through data sharing. Not only will this help doctors better understand rare conditions and how to diagnose them, but it could contribute to future treatments.

In the end, around 50% of rare disease patients remain undiagnosed, even after undergoing genomic testing. At the same time, medical professionals are constantly working to better understand and discover new information about rare diseases. They find 9,200 variant-disease associations and 250 new gene-disease associations every year, meaning that reanalyzing patients’ data could be very helpful in diagnosis.

Find the source article here.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email