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A pioneering study published in Nature Genetics showcases the success of the Solve-RD consortium's “Solvathons” — pan-European, interdisciplinary workshops designed to accelerate diagnosis for patients with rare diseases. Bringing together clinical experts and data scientists, these structured events led to diagnoses for over 100 families and introduced a new model for collaborative genomics. The workshops epitomize the interdisciplinary collaboration ecosystem of Solve-RD that has been established using Data Interpretation Task Forces and Data Analysis Task Force.
Despite advancements in genomic technologies, the majority of rare disease patients still lack a definitive diagnosis. The Solve-RD project, supported by the European Commission and encompassing 109 partners from 26 countries, sought to change that. Over 18 months, researchers implemented a series of four intensive “Solvathons,” each focused on integrating cutting-edge omics technologies such as RNA-sequencing, long-read genome sequencing, and optical genome mapping.
“These Solvathons weren’t just meetings — they were real-time, problem-solving missions,” said Vicente A. Yépez, first author from the Technical University of Munich. “They allowed for hands-on case resolution and deep collaboration between clinical and analytical experts.”
Each Solvathon combined real patient cases with sophisticated data analysis and interpretation. In total, over 1,000 families were investigated, with results leading to 28 direct diagnoses during the events and at least 80 more in follow-up. One notable success involved identifying repeat expansions in the NOP56 gene using RNA-seq, solving two previously unsolved hereditary ataxia cases on-site.
The methodology has proven scalable and cost-effective, balancing in-person and virtual participation. Furthermore, it has shown to be of value for mutual training of clinical experts and data scientists. The initiative also paved the way for the European Rare Disease Research Alliance (ERDERA), which will continue and expand this collaborative approach across Europe.
“The Solvathon model shows the power of cross-border teamwork and shared expertise,” said Holm Graessner, corresponding author from the University of Tübingen. “It sets a blueprint for integrating multi-omics diagnostics into real-world clinical settings.”
The publication not only provides detailed results and case studies but also offers a practical framework for implementing similar diagnostic efforts globally — an essential contribution to the evolving landscape of personalized medicine.
Alexander Hoischen (Radboudumc) and one of the co-organizers of the Solve-RD long-read technology Solvathon, hosted in Nijmegen 2024 stated: “The Solve-RD Solvathon’s have been hugely successful getting genomic, bioinformatic and diseases experts together in one room and utilize latest genomic innovations to work on “hardest nuts to crack” is team-science at its best. Especially the long-read technologies offer great promise to are disease patients, as shown by Solve-RD.
The Solvathons have been in part inspired by the Wilhelm Foundation’s “Undiagnosed Hackathon” for which we also had the pleasure to host the 2024 edition – also that was similarly stimulating, exciting and successful. We shall surely continue to use the same concept of hackathons and solvathons on national, European and global level.”
Contact:
Alexander Hoischen (alexander.hoischen@radboudumc.nl)
More info: www.solve-rd.eu
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