Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Schüle R(1)(2)(3), Timmann D(4), Erasmus CE(5), Reichbauer J(6)(7), Wayand M(6)(7); Solve-RD-DITF-RND; van de Warrenburg B(8)(9), Schöls L(6)(7)(8), Wilke C(6)(7), Bevot A(10), Zuchner S(11), Beltran S(12)(13)(14), Laurie S(12), Matalonga L(12), Graessner H(#)(8)(15), Synofzik M(#)(6)(7)(8); Solve-RD Consortium.

Collaborators: Baets J, Balicza P, Chinnery P, Dürr A, Haack T, Hengel H,
Horvath R, Houlden H, Kamsteeg EJ, Kamsteeg C, Lohmann K, Macaya A, Marcé-Grau
A, Maver A, Molnar J, Münchau A, Peterlin B, Riess O, Schöls L, Schüle R,
Stevanin G, Synofzik M, Timmerman V, van de Warrenburg B, van Os N, Vandrovcova
J, Wayand M, Wilke C, Graessner H, Zurek B, Ellwanger K, Ossowski S, Demidov G,
Sturm M, Schulze-Hentrich JM, Heutink P, Brunner H, Scheffer H, Hoogerbrugge N,
Hoischen A, ‘t Hoen PAC, Vissers LELM, Gilissen C, Steyaert W, Sablauskas K, de
Voer RM, Janssen E, de Boer E, Steehouwer M, Yaldiz B, Kleefstra T, Brookes AJ,
Veal C, Gibson S, Wadsley M, Mehtarizadeh M, Riaz U, Warren G, Dizjikan FY,
Shorter T, Töpf A, Straub V, Bettolo CM, Specht S, Clayton-Smith J, Banka S,
Alexander E, Jackson A, Faivre L, Thauvin C, Vitobello A, Denommé-Pichon AS,
Duffourd Y, Tisserant E, Bruel AL, Peyron C, Pélissier A, Beltran S, Gut IG,
Laurie S, Piscia D, Matalonga L, Papakonstantinou A, Bullich G, Corvo A, Garcia
C, Fernandez-Callejo M, Hernández C, Picó D, Paramonov I, Lochmüller H, Gumus G,
Bros-Facer V, Rath A, Hanauer M, Olry A, Lagorce D, Havrylenko S, Izem K, Rigour
F, Durr A, Davoine CS, Guillot-Noel L, Heinzmann A, Coarelli G, Bonne G,
Evangelista T, Allamand V, Nelson I, Yaou RB, Metay C, Eymard B, Cohen E,
Atalaia A, Stojkovic T, Macek M Jr, Turnovec M, Thomasová D, Kremliková RP,
Franková V, Havlovicová M, Kremlik V, Parkinson H, Keane T, Spalding D, Senf A,
Robinson P, Danis D, Robert G, Costa A, Patch C, Hanna M, Houlden H, Reilly M,
Vandrovcova J, Muntoni F, Zaharieva I, Sarkozy A, de Jonghe P, Nigro V, Banfi S,
Torella A, Musacchia F, Piluso G, Ferlini A, Selvatici R, Rossi R, Neri M, Aretz
S, Spier I, Sommer AK, Peters S, Oliveira C, Pelaez JG, Matos AR, José CS,
Ferreira M, Gullo I, Fernandes S, Garrido L, Ferreira P, Carneiro F, Swertz MA,
Johansson L, van der Velde JK, van der Vries G, Neerincx PB, Roelofs-Prins D,
Köhler S, Metcalfe A, Verloes A, Drunat S, Rooryck C, Trimouille A, Castello R,
Morleo M, Pinelli M, Varavallo A, De la Paz MP, Sánchez EB, Martín EL, Delgado
BM, de la Rosa FJAG, Ciolfi A, Dallapiccola B, Pizzi S, Radio FC, Tartaglia M,
Renieri A, Benetti E, Balicza P, Molnar MJ, Maver A, Peterlin B, Münchau A,
Lohmann K, Herzog R, Pauly M, Macaya A, Marcé-Grau A, Osorio AN, de Benito DN,
Lochmüller H, Thompson R, Polavarapu K, Beeson D, Cossins J, Cruz PMR, Hackman
P, Johari M, Savarese M, Udd B, Horvath R, Capella G, Valle L, Holinski-Feder E,
Laner A, Steinke-Lange V, Schröck E, Rump A.

Author information:
(1)Hertie Institute for Clinical Brain Research (HIH), Center of Neurology,
University of Tübingen, Tübingen, Germany.
.
(2)German Center for Neurodegenerative Diseases (DZNE), University of Tübingen,
Tübingen, Germany. .
(3)European Reference Network for Rare Neurological Diseases, Tübingen, Germany.
.
(4)Department of Neurology and Center for Translational Neuro- and Behavioral
Sciences (C-TNBS), University Hospital Essen, Essen, Germany.
(5)Department of Pediatric Neurology, Radboud University Medical Center, Amalia
Children’s Hospital, Donders Institute for Brain, Cognition and Behavior,
Nijmegen, The Netherlands.
(6)Hertie Institute for Clinical Brain Research (HIH), Center of Neurology,
University of Tübingen, Tübingen, Germany.
(7)German Center for Neurodegenerative Diseases (DZNE), University of Tübingen,
Tübingen, Germany.
(8)European Reference Network for Rare Neurological Diseases, Tübingen, Germany.
(9)Department of Neurology, Donders Centre for Brain, Cognition and Behavior,
Radboud University Medical Center, Nijmegen, The Netherlands.
(10)Department of Pediatric Neurology and Developmental Medicine, University
Children’s Hospital, Tübingen, Germany.
(11)Dr. John T. Macdonald Foundation Department of Human Genetics, John P.
Hussman Institute for Human Genomics, University of Miami Miller School of
Medicine, Miami, FL, USA.
(12)CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of
Science and Technology (BIST), Barcelona, Spain.
(13)Universitat Pompeu Fabra (UPF), Barcelona, Spain.
(14)Facultat de Biologia, Departament de Genètica, Microbiologia i Estadística,
Universitat de Barcelona (UB), Barcelona, Spain.
(15)Institute of Medical Genetics and Applied Genomics, University of Tübingen,
Tübingen, Germany.
(#)Contributed equally

Erratum in
Eur J Hum Genet. 2021 Aug 25;:

DOI: 10.1038/s41431-021-00901-1
PMCID: PMC8440537
PMID: 33972714 [Indexed for MEDLINE]

Conflict of interest statement: 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.

Auteurs Bordeaux Neurocampus