Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Rebecca Schuele; Dagmar Timmann; Corrie E. Erasmus; Jennifer Reichbauer; Melanie Wayand; Bart van de Warrenburg; Ludger Schoels; Carlo Wilke; Andrea Bevot; Stephan Zuchner; Sergi Beltran; Steven Laurie; Leslie Matalonga; Holm Graessner; Matthis Synofzik; Solve-RD-DITF-RND; SOLVE-RD Consortium; Han Brunner

doi:10.1038/s41431-021-00901-1

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Rebecca Schuele^*, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand, Bart van de Warrenburg, Ludger Schoels, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD-DITF-RND, SOLVE-RD Consortium, Han Brunner

^*Corresponding author for this work

Research output: Contribution to journal › Editorial › Academic › peer-review

3 Citations (Web of Science)

Original language	English
Pages (from-to)	1332-1336
Number of pages	5
Journal	European Journal of Human Genetics
Volume	29
Issue number	9
DOIs	https://doi.org/10.1038/s41431-021-00901-1
Publication status	Published - Sept 2021

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Cite this

Schuele, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., van de Warrenburg, B., Schoels, L., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Synofzik, M., Solve-RD-DITF-RND, SOLVE-RD Consortium, & Brunner, H. (2021). Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European Journal of Human Genetics, 29(9), 1332-1336. https://doi.org/10.1038/s41431-021-00901-1

@article{85ca1b0d32c245feb58d8632dc1bcf77,

title = "Solving unsolved rare neurological diseases-a Solve-RD viewpoint",

author = "Rebecca Schuele and Dagmar Timmann and Erasmus, {Corrie E.} and Jennifer Reichbauer and Melanie Wayand and {van de Warrenburg}, Bart and Ludger Schoels and Carlo Wilke and Andrea Bevot and Stephan Zuchner and Sergi Beltran and Steven Laurie and Leslie Matalonga and Holm Graessner and Matthis Synofzik and Solve-RD-DITF-RND and {SOLVE-RD Consortium} and Han Brunner",

note = "Funding Information: Funding The Solve-RD project has received funding from the European Union{\textquoteright}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 Bioinform{\'a}tica, 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 T{\"u}bingen. 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). Funding Information: Conflict of interest HG receives/has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium f{\"u}r Bildung und Forschung (BMBF), the Bundesministerium f{\"u}r 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.",

year = "2021",

month = sep,

doi = "10.1038/s41431-021-00901-1",

language = "English",

volume = "29",

pages = "1332--1336",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "9",

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Schuele, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, van de Warrenburg, B, Schoels, L, Wilke, C, Bevot, A, Zuchner, S, Beltran, S, Laurie, S, Matalonga, L, Graessner, H, Synofzik, M, Solve-RD-DITF-RND, SOLVE-RD Consortium & Brunner, H 2021, 'Solving unsolved rare neurological diseases-a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1

TY - JOUR

T1 - Solving unsolved rare neurological diseases-a Solve-RD viewpoint

AU - Schuele, Rebecca

AU - Timmann, Dagmar

AU - Erasmus, Corrie E.

AU - Reichbauer, Jennifer

AU - Wayand, Melanie

AU - van de Warrenburg, Bart

AU - Schoels, Ludger

AU - Wilke, Carlo

AU - Bevot, Andrea

AU - Zuchner, Stephan

AU - Beltran, Sergi

AU - Laurie, Steven

AU - Matalonga, Leslie

AU - Graessner, Holm

AU - Synofzik, Matthis

AU - Solve-RD-DITF-RND

AU - SOLVE-RD Consortium

AU - Brunner, Han

N1 - Funding Information: 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). Funding Information: 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.

PY - 2021/9

Y1 - 2021/9

U2 - 10.1038/s41431-021-00901-1

DO - 10.1038/s41431-021-00901-1

M3 - Editorial

C2 - 33972714

SN - 1018-4813

VL - 29

SP - 1332

EP - 1336

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 9

ER -