Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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, 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 and RUMP, Andreas (2021). Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European Journal of Human Genetics, 29 (9), 1325-1331.

[img]
Preview
HTML
41431_2021_Article_859.pdf

Download (2MB) | Preview
[img]
Preview
PDF (Supplementary Information)
Metcalfe-Solve-RD(Supp1).pdf - Supplemental Material
Creative Commons Attribution.

Download (97kB) | Preview
[img]
Preview
PDF (Supplementary Table S1)
Metcalfe-Solve-RD(Supp2).pdf - Supplemental Material
Creative Commons Attribution.

Download (17kB) | Preview
Official URL: https://www.nature.com/articles/s41431-021-00859-0
Open Access URL: https://www.nature.com/articles/s41431-021-00859-0... (Published version)
Link to published version:: https://doi.org/10.1038/s41431-021-00859-0
Related URLs:

    Abstract

    Abstract: For 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.

    Item Type: Article
    Identification Number: https://doi.org/10.1038/s41431-021-00859-0
    Page Range: 1325-1331
    SWORD Depositor: Colin Knott
    Depositing User: Colin Knott
    Date Deposited: 16 Sep 2021 10:07
    Last Modified: 16 Sep 2021 15:15
    URI: http://shura.shu.ac.uk/id/eprint/29064

    Actions (login required)

    View Item View Item

    Downloads

    Downloads per month over past year

    View more statistics