Zur Hauptnavigation wechseln Zur Suche wechseln Zum Hauptinhalt wechseln

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solve-RD-DITF-RND, The Solve-RD Consortium, Rebecca Schüle*, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand, Jonathan Baets, Peter Balicza, Patrick Chinnery, Alexandra Durr, Tobias Haack, Holger Hengel, Rita Horvath, Henry Houlden, Erik Jan Kamsteeg, Christoph Kamsteeg, Katja Lohmann, Alfons Macaya, Anna Marcé-GrauAles Maver, Maria Judit Molnar, Alexander Münchau, Borut Peterlin, Olaf Riess, Ludger Schöls, Giovanni Stevanin, Matthis Synofzik, Vincent Timmerman, Bart van de Warrenburg, Nienke van Os, Jana Vandrovcova, Melanie Wayand, Carlo Wilke, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Herzog, Martje Pauly

*Korrespondierende/r Autor/-in für diese Arbeit
OriginalspracheEnglisch
ZeitschriftEuropean Journal of Human Genetics
Jahrgang29
Ausgabenummer9
Seiten (von - bis)1332-1336
Seitenumfang5
ISSN1018-4813
DOIs
PublikationsstatusVeröffentlicht - 09.2021

Fördermittel

Funding The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (Grant Numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant Numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies. The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS), the European Joint Program on Rare Diseases-EJP-RD COFUND-EJP N° 825575 through funding for the PROSPAX consortium (441409627 to MS, RS and BvW). CW was supported by the PATE program of the Medical Faculty, University of Tübingen. CEE received support from the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund. Authors on this paper are members of the European Reference Network for Rare Neurological Diseases (ERN-RND, Project ID 739510). Conflict of interest HG receives/has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium für Bildung und Forschung (BMBF), the Bundesministerium für Gesundheit (BMG) and the European Union (EU). He has received consulting fees from Roche. He has received a speaker honorarium from Takeda. The authors declare no competing interests.

TrägerTrägernummer
Instituto Nacional de Bioinformática
Dutch Princess Beatrix Muscle Fund
European Commission
Dutch Spieren voor Spieren Muscle fund
Instituto de Salud Carlos IIIPT17/0009/0019, PT13/0001/0044
Eberhard Karls Universität Tübingen
Horizon 2020 Framework Programme825575
Bundesministerium für Gesundheit
National Institute of Neurological Disorders and StrokeR01NS072248, 441409627
EJP-RDH2020 779257, H2020 825575, FP7 305444
Seventh Framework Programme779257, 305444
Nicht hinzugefügtMR/N027302/1
TreatHSP network01GM1905

    UN SDGs

    Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

    1. SDG 3 – Gesundheit und Wohlergehen
      SDG 3 – Gesundheit und Wohlergehen

    Strategische Forschungsbereiche und Zentren

    • Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)
    • Zentren: Zentrum für Seltene Erkrankungen (ZSE)

    DFG-Fachsystematik

    • 2.23-07 Klinische Neurologie, Neurochirurgie und Neuroradiologie
    • 2.23-06 Molekulare und zelluläre Neurologie und Neuropathologie
    • 2.23-08 Kognitive und systemische Humanneurowissenschaften

    Zitieren