The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease

1:1
The Solve-RD consortium demonstrates how structured multidisciplinary “Solvathons” can address the growing complexity of advanced omics diagnostics and improve collaborative rare disease diagnosis.

Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops. Here, we highlight the experience of the Solve-RD consortium, a pan-European initiative, in implementing four structured workshops, termed ‘Solvathons’, as a regular and effective component of its operational workflow. We provide actionable insights, best practices and lessons learned for successful data integration, expert training and scalable collaborative diagnostics within large research consortia.

blank

publication

Year of publication

2025

Source

Nature Genetics volume 57, pages2361–2370 (2025)

Author

Vicente A. Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Midhuna Immaculate Joseph Maran, Thomas Hentrich, Lydia Sagath, Bart van der Sanden, Galuh Astuti, Kornelia Neveling, Laura Batlle-Masó, Danique Beijer, Felix Brechtmann, Andrés Caballero-Oteyza, Marc Dabad, Anne-Sophie Denommé-Pichon, Cenna Doornbos, Zakaria Eddafir, Berta Estévez-Arias, Ozge Aksel Kilicarslan, Ingrid H. M. Kolen, Leon Kraß, Katja Lohmann, Shubhankar Londhe, Estrella López-Martín, Kars Maassen, William Macken, Beatriz Martínez-Delgado, Davide Mei, Christian Mertes, Raffaella Minardi, Heba Morsy, Juliane S. Mueller, Daniel Natera-de Benito, Isabelle Nelson, Machteld M. Oud, Ida Paramonov, Daniel Picó, Davide Piscia, Kiran Polavarapu, Emanuele Raineri, Marco Savarese, Noor Smal, Marloes Steehouwer, Wouter Steyaert, Morris A. Swertz, Mirja Thomsen, Ana Töpf, Liedewei Van de Vondel, Gerben van der Vries, Antonio Vitobello, Carlo Wilke, Birte Zurek, Solve-RD DITF-EPICARE, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RITA, Solve-RD DITF-RND, Solve-RD consortium, Peter-Bram t’ Hoen, Leslie Matalonga, Lisenka E. L. M. Vissers, Christian Gilissen, Julia Schulze-Hentrich, Sergi Beltran, Anna Esteve-Codina, Alexander Hoischen, Julien Gagneur & Holm Graessner

You might also be interested in

June 12 - June 15
The conference will take place in Rotterdam on 12–15 June 2027 and is planned as a hybrid event by the European Society of Human Genetics.
At the European Human Genetics Conference 2026 in Gothenburg, ERDERA’s Diagnostic Research Workstream reviewed progress, highlighted early results and used a major European genetics meeting to examine how advances in data sharing and genomic analysis may strengthen rare disease diagnosis across countries.
Boston, 9–11 June 2026: ERDERA's Scientific Coordinator joined the World Orphan Drug Congress USA to set out how stronger clinical research networks can make rare disease trials more feasible across sites and borders.
On 3–4 June, EURORDIS–Rare Diseases Europe and Orphanet convened the rare disease community at ECRD 2026 in Prague around a shared call for coordinated European action, including the forthcoming European Blueprint for Rare Diseases.