{"id":65979,"date":"2025-09-15T18:21:32","date_gmt":"2025-09-15T18:21:32","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/65979\/"},"modified":"2025-09-15T18:21:32","modified_gmt":"2025-09-15T18:21:32","slug":"the-solve-rd-solvathons-as-a-pan-european-interdisciplinary-collaboration-to-diagnose-patients-with-rare-disease","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/65979\/","title":{"rendered":"The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease"},"content":{"rendered":"
  • \n

    School of Computation, Information and Technology, Technical University of Munich, Garching, Germany<\/p>\n

    Vicente A. Y\u00e9pez,\u00a0Rebeka Lukn\u00e1rov\u00e1,\u00a0Felix Brechtmann,\u00a0Leon Kra\u00df,\u00a0Shubhankar Londhe,\u00a0Christian Mertes\u00a0&\u00a0Julien Gagneur<\/p>\n<\/li>\n

  • \n

    Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n

    German Demidov,\u00a0Kornelia Ellwanger,\u00a0Birte Zurek\u00a0&\u00a0Holm Graessner<\/p>\n<\/li>\n

  • \n

    Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), Barcelona, Spain<\/p>\n

    Steven Laurie,\u00a0Marc Dabad,\u00a0Ida Paramonov,\u00a0Daniel Pic\u00f3,\u00a0Davide Piscia,\u00a0Emanuele Raineri,\u00a0Leslie Matalonga,\u00a0Sergi Beltran\u00a0&\u00a0Anna Esteve-Codina<\/p>\n<\/li>\n

  • \n

    Universitat de Barcelona, Barcelona, Spain<\/p>\n

    Steven Laurie,\u00a0Marc Dabad,\u00a0Ida Paramonov,\u00a0Daniel Pic\u00f3,\u00a0Davide Piscia,\u00a0Leslie Matalonga\u00a0&\u00a0Anna Esteve-Codina<\/p>\n<\/li>\n

  • \n

    Department of Genetics\/Epigenetics, Faculty NT, Saarland University, Saarbr\u00fccken, Germany<\/p>\n

    Midhuna Immaculate Joseph Maran,\u00a0Thomas Hentrich\u00a0&\u00a0Julia Schulze-Hentrich<\/p>\n<\/li>\n

  • \n

    Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n

    Lydia Sagath,\u00a0Bart van der Sanden,\u00a0Galuh Astuti,\u00a0Kornelia Neveling,\u00a0Machteld M. Oud,\u00a0Marloes Steehouwer,\u00a0Wouter Steyaert,\u00a0Lisenka E. L. M. Vissers,\u00a0Christian Gilissen\u00a0&\u00a0Alexander Hoischen<\/p>\n<\/li>\n

  • \n

    Infection in Immunocompromised Pediatric Patients Research Group, Vall d\u2019Hebron Research Institute, Barcelona, Spain<\/p>\n

    Laura Batlle-Mas\u00f3<\/p>\n<\/li>\n

  • \n

    Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d\u2019Hebron University Hospital, Barcelona, Spain<\/p>\n

    Laura Batlle-Mas\u00f3<\/p>\n<\/li>\n

  • \n

    Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n

    Danique Beijer<\/p>\n<\/li>\n

  • \n

    RESIST\u2014Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany<\/p>\n

    Andr\u00e9s Caballero-Oteyza<\/p>\n<\/li>\n

  • \n

    Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany<\/p>\n

    Andr\u00e9s Caballero-Oteyza<\/p>\n<\/li>\n

  • \n

    Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France<\/p>\n

    Anne-Sophie Denomm\u00e9-Pichon\u00a0&\u00a0Antonio Vitobello<\/p>\n<\/li>\n

  • \n

    Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France<\/p>\n

    Anne-Sophie Denomm\u00e9-Pichon\u00a0&\u00a0Antonio Vitobello<\/p>\n<\/li>\n

  • \n

    Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands<\/p>\n

    Cenna Doornbos,\u00a0Wouter Steyaert,\u00a0Peter-Bram t\u2019 Hoen\u00a0&\u00a0Christian Gilissen<\/p>\n<\/li>\n

  • \n

    Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n

    Cenna Doornbos\u00a0&\u00a0Peter-Bram t\u2019 Hoen<\/p>\n<\/li>\n

  • \n

    Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium<\/p>\n

    Zakaria Eddafir<\/p>\n<\/li>\n

  • \n

    Applied Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium<\/p>\n

    Zakaria Eddafir<\/p>\n<\/li>\n

  • \n

    Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de D\u00e9u, Barcelona, Spain<\/p>\n

    Berta Est\u00e9vez-Arias\u00a0&\u00a0Daniel Natera-de Benito<\/p>\n<\/li>\n

  • \n

    Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain<\/p>\n

    Berta Est\u00e9vez-Arias<\/p>\n<\/li>\n

  • \n

    Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada<\/p>\n

    Ozge Aksel Kilicarslan\u00a0&\u00a0Kiran Polavarapu<\/p>\n<\/li>\n

  • \n

    Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Faculty of Medicine, Heidelberg University Hospital, Heidelberg, Germany<\/p>\n

    Ingrid H. M. Kolen<\/p>\n<\/li>\n

  • \n

    Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany<\/p>\n

    Leon Kra\u00df,\u00a0Christian Mertes\u00a0&\u00a0Julien Gagneur<\/p>\n<\/li>\n

  • \n

    Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany<\/p>\n

    Leon Kra\u00df,\u00a0Shubhankar Londhe\u00a0&\u00a0Julien Gagneur<\/p>\n<\/li>\n

  • \n

    Institute of Neurogenetics, University of L\u00fcbeck, L\u00fcbeck, Germany<\/p>\n

    Katja Lohmann\u00a0&\u00a0Mirja Thomsen<\/p>\n<\/li>\n

  • \n

    Helmholtz Association, Munich School for Data Science, Munich, Germany<\/p>\n

    Shubhankar Londhe<\/p>\n<\/li>\n

  • \n

    Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain<\/p>\n

    Estrella L\u00f3pez-Mart\u00edn\u00a0&\u00a0Beatriz Mart\u00ednez-Delgado<\/p>\n<\/li>\n

  • \n

    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands<\/p>\n

    Kars Maassen<\/p>\n<\/li>\n

  • \n

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK<\/p>\n

    William Macken\u00a0&\u00a0Heba Morsy<\/p>\n<\/li>\n

  • \n

    CIBER of Rare Diseases (CIBERER), Madrid, Spain<\/p>\n

    Beatriz Mart\u00ednez-Delgado<\/p>\n<\/li>\n

  • \n

    Department of Neuroscience and Medical Genetics, Meyer Children\u2019s Hospital IRCCS, Florence, Italy<\/p>\n

    Davide Mei<\/p>\n<\/li>\n

  • \n

    IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy<\/p>\n

    Raffaella Minardi<\/p>\n<\/li>\n

  • \n

    Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt<\/p>\n

    Heba Morsy<\/p>\n<\/li>\n

  • \n

    Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK<\/p>\n

    Juliane S. Mueller<\/p>\n<\/li>\n

  • \n

    Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain<\/p>\n

    Daniel Natera-de Benito<\/p>\n<\/li>\n

  • \n

    Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain<\/p>\n

    Daniel Natera-de Benito<\/p>\n<\/li>\n

  • \n

    Centre de Recherche en Myologie, Institut de Myologie, Inserm, Sorbonne Universit\u00e9, Paris, France<\/p>\n

    Isabelle Nelson<\/p>\n<\/li>\n

  • \n

    Folkh\u00e4lsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland<\/p>\n

    Marco Savarese<\/p>\n<\/li>\n

  • \n

    VIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium<\/p>\n

    Noor Smal<\/p>\n<\/li>\n

  • \n

    Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands<\/p>\n

    Morris A. Swertz\u00a0&\u00a0Gerben van der Vries<\/p>\n<\/li>\n

  • \n

    John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK<\/p>\n

    Ana T\u00f6pf<\/p>\n<\/li>\n

  • \n

    Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium<\/p>\n

    Liedewei Van de Vondel<\/p>\n<\/li>\n

  • \n

    Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium<\/p>\n

    Liedewei Van de Vondel<\/p>\n<\/li>\n

  • \n

    Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium<\/p>\n

    Liedewei Van de Vondel<\/p>\n<\/li>\n

  • \n

    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n

    Carlo Wilke<\/p>\n<\/li>\n

  • \n

    German Center for Neurodegenerative Diseases, T\u00fcbingen, Germany<\/p>\n

    Carlo Wilke<\/p>\n<\/li>\n

  • \n

    Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n

    Lisenka E. L. M. Vissers<\/p>\n<\/li>\n

  • \n

    Departament de Gen\u00e8tica, Microbiologia i Estad\u00edstica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain<\/p>\n

    Sergi Beltran<\/p>\n<\/li>\n

  • \n

    Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands<\/p>\n

    Alexander Hoischen<\/p>\n<\/li>\n

  • \n

    Centre for Rare Diseases, University of T\u00fcbingen, T\u00fcbingen, Germany<\/p>\n

    Holm Graessner<\/p>\n<\/li>\n

    Led data analysis: V.A.Y., G.D., S. Laurie, R.L., M.I.J.M., T.H., L.S., B.v.d.S., G.A., K.N., F.B., C.D., I.P., E.R., M. Steehouwer, W.S., P.-B.t\u2019H., L.M. and A.E.-C. Contributed to data analysis and\/or clinical and genomic interpretation: L.B.-M., D.B., A.C.-O., A.-S.D.-P., Z.E., B.E.-A., O.A.K., I.H.M.K., L.K., K.L., E.L.-M., K.M., W.M., B.M.-D., D.M., R.M., H.M., J.S.M., D.N.-d.B., I.N., M.M.O., K.P., M. Savarese, N.S., M.T., A.T., L.V.d.V., A.V. and C.W. Contributed to data processing and infrastructure: M.D., S. Londhe, C.M., D. Pic\u00f3, D. Piscia, M.A.S. and G.v.d.V. Contributed to project coordination: K.E. and B.Z. Contributed to writing the manuscript: V.A.Y., G.D., K.E., S. Laurie, R.L., L.M., S.B., A.E.-C., A.H., J.G. and H.G. Supervised and designed the study: V.A.Y., G.D., S. Laurie, L.E.L.M.V., C.G., J.S.-H., S.B., A.E.-C., A.H., J.G. and H.G.<\/p>\n","protected":false},"excerpt":{"rendered":"School of Computation, Information and Technology, Technical University of Munich, Garching, Germany Vicente A. Y\u00e9pez,\u00a0Rebeka Lukn\u00e1rov\u00e1,\u00a0Felix Brechtmann,\u00a0Leon Kra\u00df,\u00a0Shubhankar…\n","protected":false},"author":2,"featured_media":65980,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[272],"tags":[2567,2569,2564,2566,18,2568,910,12628,458,4557,2565,19,17,133],"class_list":{"0":"post-65979","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-agriculture","9":"tag-animal-genetics-and-genomics","10":"tag-biomedicine","11":"tag-cancer-research","12":"tag-eire","13":"tag-gene-function","14":"tag-general","15":"tag-genetic-testing","16":"tag-genetics","17":"tag-genetics-research","18":"tag-human-genetics","19":"tag-ie","20":"tag-ireland","21":"tag-science"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/65979","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=65979"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/65979\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/65980"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=65979"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=65979"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=65979"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}