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

  1. Vissers, Lisenka ORCID logo
  2. Schüle, Rebecca
  3. Synofzik, Matthis ORCID logo
  4. Töpf, Ana
  5. Gilissen, Christian ORCID logo
  6. Ossowski, Stephan
  7. 't Hoen, Peter ORCID logo
  8. Schulze-Hentrich, Julia M.
  9. Riess, Olaf
  10. Brunner, Han G.
  11. Brookes, Anthony ORCID logo
  12. Rath, Ana ORCID logo
  13. Bonne, Gisèle ORCID logo
  14. hoogerbrugge, nicoline ORCID logo
  15. Evangelista, Teresinha
  16. Harmuth, Tina ORCID logo
  17. Swertz, Morris
  18. Spalding, John Dylan ORCID logo
  19. Hoischen, Alexander
  20. Graessner, Holm ORCID logo
  21. Haack, Tobias B.
  22. Zurek, Birte
  23. Ellwanger, Kornelia
  24. Demidov, German
  25. Sturm, Marc
  26. Kessler, Christoph
  27. Wayand, Melanie
  28. Wilke, Carlo
  29. Traschütz, Andreas
  30. Schöls, Ludger
  31. Hengel, Holger
  32. Heutink, Peter
  33. Brunner, Han
  34. Scheffer, Hans
  35. Steyaert, Wouter
  36. Sablauskas, Karolis
  37. de Voer, Richarda M.
  38. Kamsteeg, Erik-Jan
  39. van de Warrenburg, Bart
  40. van Os, Nienke
  41. te Paske, Iris
  42. Janssen, Erik
  43. de Boer, Elke
  44. Steehouwer, Marloes
  45. Yaldiz, Burcu
  46. Kleefstra, Tjitske
  47. Veal, Colin
  48. Gibson, Spencer
  49. Wadsley, Marc
  50. Mehtarizadeh, Mehdi
  51. Riaz, Umar
  52. Warren, Greg
  53. Dizjikan, Farid Yavari
  54. Shorter, Thomas
  55. Straub, Volker
  56. Bettolo, Chiara Marini
  57. Specht, Sabine
  58. Clayton-Smith, Jill
  59. Banka, Siddharth
  60. Alexander, Elizabeth
  61. Jackson, Adam
  62. Faivre, Laurence
  63. Thauvin, Christel
  64. Vitobello, Antonio
  65. Denommé-Pichon, Anne-Sophie
  66. Duffourd, Yannis
  67. Tisserant, Emilie
  68. Bruel, Ange-Line
  69. Peyron, Christine
  70. Pélissier, Aurore
  71. Beltran, Sergi
  72. Gut, Ivo Glynne
  73. Laurie, Steven
  74. Piscia, Davide
  75. Matalonga, Leslie
  76. Papakonstantinou, Anastasios
  77. Bullich, Gemma
  78. Corvo, Alberto
  79. Garcia, Carles
  80. Fernandez-Callejo, Marcos
  81. Hernández, Carles
  82. Picó, Daniel
  83. Paramonov, Ida
  84. Gumus, Gulcin
  85. Bros-Facer, Virginie
  86. Hanauer, Marc
  87. Olry, Annie
  88. Lagorce, David
  89. Havrylenko, Svitlana
  90. Izem, Katia
  91. Rigour, Fanny
  92. Stevanin, Giovanni
  93. Durr, Alexandra
  94. Davoine, Claire-Sophie
  95. Guillot-Noel, Léna
  96. Heinzmann, Anna
  97. Coarelli, Giulia
  98. Allamand, Valérie
  99. Nelson, Isabelle
  100. Yaou, Rabah Ben
  101. Metay, Corinne
  102. Eymard, Bruno
  103. Cohen, Enzo
  104. Atalaia, Antonio
  105. Stojkovic, Tanya
  106. Macek, Milan
  107. Turnovec, Marek
  108. Thomasová, Dana
  109. Kremliková, Radka Pourová
  110. Franková, Vera
  111. Havlovicová, Markéta
  112. Kremlik, Vlastimil
  113. Parkinson, Helen
  114. Keane, Thomas
  115. Senf, Alexander
  116. Robinson, Peter
  117. Danis, Daniel
  118. Robert, Glenn
  119. Costa, Alessia
  120. Patch, Christine
  121. Hanna, Mike
  122. Houlden, Henry
  123. Reilly, Mary
  124. Vandrovcova, Jana
  125. Muntoni, Francesco
  126. Zaharieva, Irina
  127. Sarkozy, Anna
  128. Timmerman, Vincent
  129. Baets, Jonathan
  130. Van de Vondel, Liedewei
  131. Beijer, Danique
  132. de Jonghe, Peter
  133. Nigro, Vincenzo
  134. Banfi, Sandro
  135. Torella, Annalaura
  136. Musacchia, Francesco
  137. Piluso, Giulio
  138. Ferlini, Alessandra
  139. Selvatici, Rita
  140. Rossi, Rachele
  141. Neri, Marcella
  142. Aretz, Stefan
  143. Spier, Isabel
  144. Sommer, Anna Katharina
  145. Peters, Sophia
  146. Oliveira, Carla
  147. Pelaez, Jose Garcia
  148. Matos, Ana Rita
  149. José, Celina São
  150. Ferreira, Marta
  151. Gullo, Irene
  152. Fernandes, Susana
  153. Garrido, Luzia
  154. Ferreira, Pedro
  155. Carneiro, Fátima
  156. Swertz, Morris A.
  157. Johansson, Lennart
  158. van der Velde, Joeri K.
  159. van der Vries, Gerben
  160. Neerincx, Pieter B.
  161. Roelofs-Prins, Dieuwke
  162. Köhler, Sebastian
  163. Metcalfe, Alison
  164. Verloes, Alain
  165. Drunat, Séverine
  166. Rooryck, Caroline
  167. Trimouille, Aurelien
  168. Castello, Raffaele
  169. Morleo, Manuela
  170. Pinelli, Michele
  171. Varavallo, Alessandra
  172. De la Paz, Manuel Posada
  173. Sánchez, Eva Bermejo
  174. Martín, Estrella López
  175. Delgado, Beatriz Martínez
  176. de la Rosa, F. Javier Alonso García
  177. Ciolfi, Andrea
  178. Dallapiccola, Bruno
  179. Pizzi, Simone
  180. Radio, Francesca Clementina
  181. Tartaglia, Marco
  182. Renieri, Alessandra
  183. Benetti, Elisa
  184. Balicza, Peter
  185. Molnar, Maria Judit
  186. Maver, Ales
  187. Peterlin, Borut
  188. Münchau, Alexander
  189. Lohmann, Katja
  190. Herzog, Rebecca
  191. Pauly, Martje
  192. Macaya, Alfons
  193. Marcé-Grau, Anna
  194. Osorio, Andres Nascimiento
  195. de Benito, Daniel Natera
  196. Lochmüller, Hanns
  197. Thompson, Rachel
  198. Polavarapu, Kiran
  199. Beeson, David
  200. Cossins, Judith
  201. Cruz, Pedro M. Rodriguez
  202. Hackman, Peter
  203. Johari, Mridul
  204. Savarese, Marco
  205. Udd, Bjarne
  206. Horvath, Rita
  207. Capella, Gabriel
  208. Valle, Laura
  209. Holinski-Feder, Elke
  210. Laner, Andreas
  211. Steinke-Lange, Verena
  212. Schröck, Evelin
  213. Rump, Andreas

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1000 Titel
  • Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
1000 Autor/in
  1. Vissers, Lisenka |
  2. Schüle, Rebecca |
  3. Synofzik, Matthis |
  4. Töpf, Ana |
  5. Gilissen, Christian |
  6. Ossowski, Stephan |
  7. 't Hoen, Peter |
  8. Schulze-Hentrich, Julia M. |
  9. Riess, Olaf |
  10. Brunner, Han G. |
  11. Brookes, Anthony |
  12. Rath, Ana |
  13. Bonne, Gisèle |
  14. hoogerbrugge, nicoline |
  15. Evangelista, Teresinha |
  16. Harmuth, Tina |
  17. Swertz, Morris |
  18. Spalding, John Dylan |
  19. Hoischen, Alexander |
  20. Graessner, Holm |
  21. Haack, Tobias B. |
  22. Zurek, Birte |
  23. Ellwanger, Kornelia |
  24. Demidov, German |
  25. Sturm, Marc |
  26. Kessler, Christoph |
  27. Wayand, Melanie |
  28. Wilke, Carlo |
  29. Traschütz, Andreas |
  30. Schöls, Ludger |
  31. Hengel, Holger |
  32. Heutink, Peter |
  33. Brunner, Han |
  34. Scheffer, Hans |
  35. Steyaert, Wouter |
  36. Sablauskas, Karolis |
  37. de Voer, Richarda M. |
  38. Kamsteeg, Erik-Jan |
  39. van de Warrenburg, Bart |
  40. van Os, Nienke |
  41. te Paske, Iris |
  42. Janssen, Erik |
  43. de Boer, Elke |
  44. Steehouwer, Marloes |
  45. Yaldiz, Burcu |
  46. Kleefstra, Tjitske |
  47. Veal, Colin |
  48. Gibson, Spencer |
  49. Wadsley, Marc |
  50. Mehtarizadeh, Mehdi |
  51. Riaz, Umar |
  52. Warren, Greg |
  53. Dizjikan, Farid Yavari |
  54. Shorter, Thomas |
  55. Straub, Volker |
  56. Bettolo, Chiara Marini |
  57. Specht, Sabine |
  58. Clayton-Smith, Jill |
  59. Banka, Siddharth |
  60. Alexander, Elizabeth |
  61. Jackson, Adam |
  62. Faivre, Laurence |
  63. Thauvin, Christel |
  64. Vitobello, Antonio |
  65. Denommé-Pichon, Anne-Sophie |
  66. Duffourd, Yannis |
  67. Tisserant, Emilie |
  68. Bruel, Ange-Line |
  69. Peyron, Christine |
  70. Pélissier, Aurore |
  71. Beltran, Sergi |
  72. Gut, Ivo Glynne |
  73. Laurie, Steven |
  74. Piscia, Davide |
  75. Matalonga, Leslie |
  76. Papakonstantinou, Anastasios |
  77. Bullich, Gemma |
  78. Corvo, Alberto |
  79. Garcia, Carles |
  80. Fernandez-Callejo, Marcos |
  81. Hernández, Carles |
  82. Picó, Daniel |
  83. Paramonov, Ida |
  84. Gumus, Gulcin |
  85. Bros-Facer, Virginie |
  86. Hanauer, Marc |
  87. Olry, Annie |
  88. Lagorce, David |
  89. Havrylenko, Svitlana |
  90. Izem, Katia |
  91. Rigour, Fanny |
  92. Stevanin, Giovanni |
  93. Durr, Alexandra |
  94. Davoine, Claire-Sophie |
  95. Guillot-Noel, Léna |
  96. Heinzmann, Anna |
  97. Coarelli, Giulia |
  98. Allamand, Valérie |
  99. Nelson, Isabelle |
  100. Yaou, Rabah Ben |
  101. Metay, Corinne |
  102. Eymard, Bruno |
  103. Cohen, Enzo |
  104. Atalaia, Antonio |
  105. Stojkovic, Tanya |
  106. Macek, Milan |
  107. Turnovec, Marek |
  108. Thomasová, Dana |
  109. Kremliková, Radka Pourová |
  110. Franková, Vera |
  111. Havlovicová, Markéta |
  112. Kremlik, Vlastimil |
  113. Parkinson, Helen |
  114. Keane, Thomas |
  115. Senf, Alexander |
  116. Robinson, Peter |
  117. Danis, Daniel |
  118. Robert, Glenn |
  119. Costa, Alessia |
  120. Patch, Christine |
  121. Hanna, Mike |
  122. Houlden, Henry |
  123. Reilly, Mary |
  124. Vandrovcova, Jana |
  125. Muntoni, Francesco |
  126. Zaharieva, Irina |
  127. Sarkozy, Anna |
  128. Timmerman, Vincent |
  129. Baets, Jonathan |
  130. Van de Vondel, Liedewei |
  131. Beijer, Danique |
  132. de Jonghe, Peter |
  133. Nigro, Vincenzo |
  134. Banfi, Sandro |
  135. Torella, Annalaura |
  136. Musacchia, Francesco |
  137. Piluso, Giulio |
  138. Ferlini, Alessandra |
  139. Selvatici, Rita |
  140. Rossi, Rachele |
  141. Neri, Marcella |
  142. Aretz, Stefan |
  143. Spier, Isabel |
  144. Sommer, Anna Katharina |
  145. Peters, Sophia |
  146. Oliveira, Carla |
  147. Pelaez, Jose Garcia |
  148. Matos, Ana Rita |
  149. José, Celina São |
  150. Ferreira, Marta |
  151. Gullo, Irene |
  152. Fernandes, Susana |
  153. Garrido, Luzia |
  154. Ferreira, Pedro |
  155. Carneiro, Fátima |
  156. Swertz, Morris A. |
  157. Johansson, Lennart |
  158. van der Velde, Joeri K. |
  159. van der Vries, Gerben |
  160. Neerincx, Pieter B. |
  161. Roelofs-Prins, Dieuwke |
  162. Köhler, Sebastian |
  163. Metcalfe, Alison |
  164. Verloes, Alain |
  165. Drunat, Séverine |
  166. Rooryck, Caroline |
  167. Trimouille, Aurelien |
  168. Castello, Raffaele |
  169. Morleo, Manuela |
  170. Pinelli, Michele |
  171. Varavallo, Alessandra |
  172. De la Paz, Manuel Posada |
  173. Sánchez, Eva Bermejo |
  174. Martín, Estrella López |
  175. Delgado, Beatriz Martínez |
  176. de la Rosa, F. Javier Alonso García |
  177. Ciolfi, Andrea |
  178. Dallapiccola, Bruno |
  179. Pizzi, Simone |
  180. Radio, Francesca Clementina |
  181. Tartaglia, Marco |
  182. Renieri, Alessandra |
  183. Benetti, Elisa |
  184. Balicza, Peter |
  185. Molnar, Maria Judit |
  186. Maver, Ales |
  187. Peterlin, Borut |
  188. Münchau, Alexander |
  189. Lohmann, Katja |
  190. Herzog, Rebecca |
  191. Pauly, Martje |
  192. Macaya, Alfons |
  193. Marcé-Grau, Anna |
  194. Osorio, Andres Nascimiento |
  195. de Benito, Daniel Natera |
  196. Lochmüller, Hanns |
  197. Thompson, Rachel |
  198. Polavarapu, Kiran |
  199. Beeson, David |
  200. Cossins, Judith |
  201. Cruz, Pedro M. Rodriguez |
  202. Hackman, Peter |
  203. Johari, Mridul |
  204. Savarese, Marco |
  205. Udd, Bjarne |
  206. Horvath, Rita |
  207. Capella, Gabriel |
  208. Valle, Laura |
  209. Holinski-Feder, Elke |
  210. Laner, Andreas |
  211. Steinke-Lange, Verena |
  212. Schröck, Evelin |
  213. Rump, Andreas |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-06-01
1000 Erschienen in
1000 Quellenangabe
  • 29(9):1325-1331
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41431-021-00859-0 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440542/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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.
1000 Sacherschließung
lokal Europe [MeSH]
lokal Intersectoral Collaboration [MeSH]
lokal Humans [MeSH]
lokal Whole Exome Sequencing/methods [MeSH]
lokal Medical genetics
lokal Genetic Diseases, Inborn/diagnosis [MeSH]
lokal Viewpoint
lokal Diseases
lokal Consensus Development Conferences as Topic [MeSH]
lokal Information Dissemination [MeSH]
lokal Rare Diseases/genetics [MeSH]
lokal Genetic Testing/methods [MeSH]
lokal Rare Diseases/diagnosis [MeSH]
lokal Genetic Diseases, Inborn/genetics [MeSH]
1000 Liste der Beteiligten
  1. 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1000 Hinweis
  • DeepGreen-ID: 747d83c70498438d9a3c14d9351b1d47 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
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1000 Dateien
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6442778.rdf
1000 Erstellt am 2023-04-26T15:40:42.093+0200
1000 Erstellt von 322
1000 beschreibt frl:6442778
1000 Zuletzt bearbeitet 2023-10-19T13:24:31.608+0200
1000 Objekt bearb. Thu Oct 19 13:24:31 CEST 2023
1000 Vgl. frl:6442778
1000 Oai Id
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