Journal Article

DZNE-2025-01166

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Yépez, V. A. ; Demidov, G. ; Ellwanger, K. ; Laurie, S. ; Luknárová, R. ; Joseph Maran, M. I. ; Hentrich, T. ; Sagath, L. ; van der Sanden, B. ; Astuti, G. ; Neveling, K. ; Batlle-Masó, L. ; Beijer, D.Extern* ; Brechtmann, F. ; Caballero-Oteyza, A. ; Dabad, M. ; Denommé-Pichon, A.-S. ; Doornbos, C. ; Eddafir, Z. ; Estévez-Arias, B. ; Kilicarslan, O. A. ; Kolen, I. H. M. ; Kraß, L. ; Lohmann, K. ; Londhe, S. ; López-Martín, E. ; Maassen, K. ; Macken, W. ; Martínez-Delgado, B. ; Mei, D. ; Mertes, C. ; Minardi, R. ; Morsy, H. ; Mueller, J. S. ; Natera-de Benito, D. ; Nelson, I. ; Oud, M. M. ; Paramonov, I. ; Picó, D. ; Piscia, D. ; Polavarapu, K. ; Raineri, E. ; Savarese, M. ; Smal, N. ; Steehouwer, M. ; Steyaert, W. ; Swertz, M. A. ; Thomsen, M. ; Töpf, A. ; Van de Vondel, L. ; van der Vries, G. ; Vitobello, A. ; Wilke, C.DZNE* ; Zurek, B. ; DITF-EPICARE, S.-R. (Collaboration Author) ; DITF-ITHACA, S.-R. (Collaboration Author) ; DITF-EURO-NMD, S.-R. (Collaboration Author) ; DITF-RITA, S.-R. (Collaboration Author) ; DITF-RND, S.-R. (Collaboration Author) ; consortium, S.-R. (Collaboration Author) ; T' Hoen, P.-B. ; Matalonga, L. ; Vissers, L. E. L. M. ; Gilissen, C. ; Schulze-Hentrich, J. ; Beltran, S. ; Esteve-Codina, A. ; Hoischen, A. ; Gagneur, J. ; Graessner, H.

2025
Macmillan Publishers Limited, part of Springer Nature London

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Please use a persistent id in citations: doi:10.1038/s41588-025-02290-3

Abstract: 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.

Keyword(s): Rare Diseases: diagnosis (MeSH) ; Rare Diseases: genetics (MeSH) ; Humans (MeSH) ; Europe (MeSH) ; Genomics: methods (MeSH) ; Genetic Testing: methods (MeSH)

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Nature ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 30 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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