Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Authors: Zurek Birte , Ellwanger Kornelia , Vissers Lisenka E. L. M. , Schüle Rebecca , Synofzik Matthis , Töpf Ana , de Voer Richarda M. , Laurie Steven , Matalonga Leslie , Gilissen Christian , Ossowski Stephan , ’t Hoen Peter A. C. , Vitobello Antonio , Schulze-Hentrich Julia M. , Riess Olaf , Brunner Han G. , Brookes Anthony J. , Rath Ana , Bonne Gisèle , Gumus Gulcin , Verloes Alain , Hoogerbrugge Nicoline , Evangelista Teresinha , Harmuth Tina , Swertz Morris , Spalding Dylan , Hoischen Alexander , Beltran Sergi , Graessner Holm ,   Solve-RD consortium, Haack Tobias B. , Zurek Birte , Ellwanger Kornelia , Demidov German , Sturm Marc , Kessler Christoph , Wayand Melanie , Wilke Carlo , Traschütz Andreas , Schöls Ludger , Hengel Holger , Heutink Peter , Brunner Han , Scheffer Hans , Steyaert Wouter , Sablauskas Karolis , de Voer Richarda M. , Kamsteeg Erik-Jan , van de Warrenburg Bart , van Os Nienke , te Paske Iris , Janssen Erik , de Boer Elke , Steehouwer Marloes , Yaldiz Burcu , Kleefstra Tjitske , Veal Colin , Gibson Spencer , Wadsley Marc , Mehtarizadeh Mehdi , Riaz Umar , Warren Greg , Dizjikan Farid Yavari , Shorter Thomas , Straub Volker , Bettolo Chiara Marini , Specht Sabine , Clayton-Smith Jill , Banka Siddharth , Alexander Elizabeth , Jackson Adam , Faivre Laurence , Thauvin Christel , Vitobello Antonio , Denommé-Pichon Anne-Sophie , Duffourd Yannis , Tisserant Emilie , Bruel Ange-Line , Peyron Christine , Pélissier Aurore , Beltran Sergi , Gut Ivo Glynne , Laurie Steven , Piscia Davide , Matalonga Leslie , Papakonstantinou Anastasios , Bullich Gemma , Corvo Alberto , Garcia Carles , Fernandez-Callejo Marcos , Hernández Carles , Picó Daniel , Paramonov Ida , Lochmüller Hanns , Gumus Gulcin , Bros-Facer Virginie , Hanauer Marc , Olry Annie , Lagorce David , Havrylenko Svitlana , Izem Katia , Rigour Fanny , Stevanin Giovanni , Durr Alexandra , Davoine Claire-Sophie , Guillot-Noel Léna , Heinzmann Anna , Coarelli Giulia , Allamand Valérie , Nelson Isabelle , Yaou Rabah Ben , Metay Corinne , Eymard Bruno , Cohen Enzo , Atalaia Antonio , Stojkovic Tanya , Macek Milan , Turnovec Marek , Thomasová Dana , Kremliková Radka Pourová , Franková Vera , Havlovicová Markéta , Kremlik Vlastimil , Parkinson Helen , Keane Thomas , Senf Alexander , Robinson Peter , Danis Daniel , Robert Glenn , Costa Alessia , Patch Christine , Hanna Mike , Houlden Henry , Reilly Mary , Vandrovcova Jana , Muntoni Francesco , Zaharieva Irina , Sarkozy Anna , Timmerman Vincent , Baets Jonathan , Van de Vondel Liedewei , Beijer Danique , de Jonghe Peter , Nigro Vincenzo , Banfi Sandro , Torella Annalaura , Musacchia Francesco , Piluso Giulio , Ferlini Alessandra , Selvatici Rita , Rossi Rachele , Neri Marcella , Aretz Stefan , Spier Isabel , Sommer Anna Katharina , Peters Sophia , Oliveira Carla , Pelaez Jose Garcia , Matos Ana Rita , José Celina São , Ferreira Marta , Gullo Irene , Fernandes Susana , Garrido Luzia , Ferreira Pedro , Carneiro Fátima , Swertz Morris A. , Johansson Lennart , van der Velde Joeri K. , van der Vries Gerben , Neerincx Pieter B. , Roelofs-Prins Dieuwke , Köhler Sebastian , Metcalfe Alison , Verloes Alain , Drunat Séverine , Rooryck Caroline , Trimouille Aurelien , Castello Raffaele , Morleo Manuela , Pinelli Michele , Varavallo Alessandra , De la Paz Manuel Posada , Sánchez Eva Bermejo , Martín Estrella López , Delgado Beatriz Martínez , de la Rosa F. Javier Alonso García , Ciolfi Andrea , Dallapiccola Bruno , Pizzi Simone , Radio Francesca Clementina , Tartaglia Marco , Renieri Alessandra , Benetti Elisa , Balicza Peter , Molnar Maria Judit , Maver Ales , Peterlin Borut , Münchau Alexander , Lohmann Katja , Herzog Rebecca , Pauly Martje , Macaya Alfons , Marcé-Grau Anna , Osorio Andres Nascimiento , de Benito Daniel Natera , Lochmüller Hanns , Thompson Rachel , Polavarapu Kiran , Beeson David , Cossins Judith , Cruz Pedro M. Rodriguez , Hackman Peter , Johari Mridul , Savarese Marco , Udd Bjarne , Horvath Rita , Capella Gabriel , Valle Laura , Holinski-Feder Elke , Laner Andreas , Steinke-Lange Verena , Schröck Evelin , Rump Andreas 
Published: June 2021

AbstractFor the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.