Explore the words cloud of the Solve-RD project. It provides you a very rough idea of what is the project "Solve-RD" about.
The following table provides information about the project.
Coordinator |
EBERHARD KARLS UNIVERSITAET TUEBINGEN
Organization address contact info |
Coordinator Country | Germany [DE] |
Project website | http://www.solve-rd.eu |
Total cost | 15˙361˙621 € |
EC max contribution | 15˙361˙621 € (100%) |
Programme |
1. H2020-EU.3.1.1. (Understanding health, wellbeing and disease) |
Code Call | H2020-SC1-2017-Single-Stage-RTD |
Funding Scheme | RIA |
Starting year | 2018 |
Duration (year-month-day) | from 2018-01-01 to 2022-12-31 |
Take a look of project's partnership.
The main ambitions of the Solve-RD proposal are (i) to solve large numbers of RD, for which a molecular cause is not known yet, by sophisticated combined Omics approaches, and (ii) to improve diagnostics of RD patients through a “genetic knowledge web”. Solve-RD will pursue a clear visionary and integrated “beyond the exome” approach. The entire Solve-RD proposal has been motivated, designed and put together by a core group of four ERNs, but also reaches out to all 24 ERNs. To tackle diseases which are unsolved by applying cutting edge strategies, Solve-RD has thus formed a consortium that comprises (i) leading clinicians, geneticists and translational researchers of these ERNs, (ii) RD research and diagnostic infrastructures, (iii) patient organisations, as well as (iv) leading experts in the field of -omics technologies, bioinformatics and knowledge management. Solve-RD will deliver 7 main implementation steps: (i) Collect Phenotypes, (ii) New phenotype patterns, (iii) Re-analyse exomes / genomes, (iv) Novel molecular strategies, (v) Functional analysis, (iv) Clinical utility and (vii) Towards therapy. For analysis Solve-RD will apply data driven and expert driven approaches. We anticipate to increase diagnostic yield from 19.000 unsolved exomes/genomes by about 3-5%. Cohort specific innovative -omis strategies will be pursued, also addressing cost-effective issues. Analysis of more than 800 patients with highly peculiar (ultra-rare) phenotypes will highly increase the chance to find novel disease genes and novel disease mechanisms. We anticipate to solve more than 2.000 cases. Finding further matching patients will be secured by newly developed matchmaking approaches and by screening using MIPs technology in the more than 20.000 unclassified patients of the ERNs. For the first time in Europe we will also implement a novel brokerage structure connecting clinicians, gene discoverer and basic researcher to quickly verify novel genes and disease mechanisms.
Guidelines for collection of experimental data | Documents, reports | 2020-03-24 14:33:15 |
Solve-RD communication and dissemination tools | Documents, reports | 2020-03-24 14:33:15 |
All foundational standards selected and implemented across the project | Documents, reports | 2020-03-24 14:33:15 |
Central RD-Connect database serving Solve-RD, including user authentication and authorization | Documents, reports | 2020-03-24 14:33:15 |
Metadata catalog operational, with initial content | Documents, reports | 2020-03-24 14:33:15 |
Deployment of PhenoTips custom forms according to the ERNs specifications | Documents, reports | 2020-03-24 14:33:15 |
Guidelines for exome/genome re-analysis | Documents, reports | 2020-03-24 14:33:15 |
Training modules, guidance document and online help module for collection of phenotypes | Documents, reports | 2020-03-24 14:33:15 |
First training for ePAGs delivered | Documents, reports | 2020-03-24 14:33:14 |
Take a look to the deliverables list in detail: detailed list of Solve-RD deliverables.
year | authors and title | journal | last update |
---|---|---|---|
2018 |
Christian Gagliardi, Federico Perfetto, Massimiliano Lorenzini, Alessandra Ferlini, Fabrizio Salvi, Agnese Milandri, Cristina Candida Quarta, Giulia Taborchi, Simone Bartolini, Sabrina Frusconi, Raffaele Martone, Michele Mario Cinelli, Serena Foffi, Maria Letizia Bacchi Reggiani, Gioele Fabbri, Paolo Cataldo, Francesco Cappelli, Claudio Rapezzi Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure published pages: 1417-1425, ISSN: 1388-9842, DOI: 10.1002/ejhf.1285 |
European Journal of Heart Failure 20/10 | 2020-03-24 |
2019 |
Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Alessandra Ferlini Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family published pages: , ISSN: 1664-8021, DOI: 10.3389/fgene.2018.00723 |
Frontiers in Genetics 9 | 2020-03-24 |
2019 |
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies published pages: , ISSN: 1756-994X, DOI: 10.1186/s13073-019-0649-3 |
Genome Medicine 11/1 | 2020-03-24 |
2018 |
Annemieke Aartsma-Rus, Alessandra Ferlini, Elizabeth M. McNally, Pietro Spitali, H. Lee Sweeney, Annemieke M. Aartsma-Rus, Christina Al-Khalili Szigyarto, Luca Bello, Abby Bronson, Kristy Brown, Filippo Buccella, Jessica Chadwick, Alessandra Ferlini, Diane Frank, Eric Hoffman, Jane Larkindale, G. McClorey, Elizabeth McNally, Rick Munschauer, Francesco Muntoni, Jane Owens, Ulrike Schara, Pietro Spi 226th ENMC International Workshop: published pages: 77-86, ISSN: 0960-8966, DOI: 10.1016/j.nmd.2017.10.002 |
Neuromuscular Disorders 28/1 | 2020-03-24 |
2018 |
Nathalie Goemans, Eugenio Mercuri, Elena Belousova, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, A. Araujo, E. Bertini, P. Born, C. Cances, B. Chabrol, J.-H. Chae, J. Colomer Oferil, G.P. Comi, J.-M. Cuisset, G. D\'Anjou, I. Desguerre, R. Erazo Torricelli, R. Escobar, D. Feder, A. Ferlini, R. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy published pages: 4-15, ISSN: 0960-8966, DOI: 10.1016/j.nmd.2017.10.004 |
Neuromuscular Disorders 28/1 | 2020-03-24 |
2019 |
M. Di Rienzo, M. Antonioli, C. Fusco, Y. Liu, M. Mari, I. Orhon, G. Refolo, F. Germani, M. Corazzari, A. Romagnoli, F. Ciccosanti, B. Mandriani, M. T. Pellico, R. De La Torre, H. Ding, M. Dentice, M. Neri, A. Ferlini, F. Reggiori, M. Kulesz-Martin, M. Piacentini, G. Merla, G. M. Fimia Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains published pages: eaau8857, ISSN: 2375-2548, DOI: 10.1126/sciadv.aau8857 |
Science Advances 5/5 | 2020-03-24 |
2019 |
Tuomo Mantere, Simone Kersten, Alexander Hoischen Long-Read Sequencing Emerging in Medical Genetics published pages: , ISSN: 1664-8021, DOI: 10.3389/fgene.2019.00426 |
Frontiers in Genetics 10 | 2020-03-24 |
2018 |
Fawn Leigh, Alessandra Ferlini, Doug Biggar, Katharine Bushby, Richard Finkel, Lauren P. Morgenroth, Kathryn R. Wagner Neurology Care, Diagnostics, and Emerging Therapies of the Patient With Duchenne Muscular Dystrophy published pages: S5-S16, ISSN: 0031-4005, DOI: 10.1542/peds.2018-0333c |
Pediatrics 142/Supplement 2 | 2020-03-24 |
2019 |
Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek-Yagel, Anna Sarkozy, Russell J. Butterfield, Cristina Jou, Cecilia Jimenez-Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Val A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies published pages: , ISSN: 2379-3708, DOI: 10.1172/jci.insight.124403 |
JCI Insight 4/6 | 2020-03-24 |
2018 |
Monika Hiller, Maria Sofia Falzarano, Iker Garcia-Jimenez, Valentina Sardone, Ruurd C. Verheul, Linda Popplewell, Karen Anthony, Estibaliz Ruiz-Del-Yerro, Hana Osman, Jelle J. Goeman, Kamel Mamchaoui, George Dickson, Alessandra Ferlini, Francesco Muntoni, Annemieke Aartsma-Rus, Virginia Arechavala-Gomeza, Nicole A. Datson, Pietro Spitali A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures published pages: e0204485, ISSN: 1932-6203, DOI: 10.1371/journal.pone.0204485 |
PLOS ONE 13/10 | 2020-03-24 |
2018 |
Eline M. C. Hamilton, Hannemieke D. W. van der Lei, Gerre Vermeulen, Jan A. M. Gerver, Charles M. Lourenço, Sakkubai Naidu, Hanna Mierzewska, Reinoud J. B. J. Gemke, Henrica C. W. de Vet, Bernard M. J. Uitdehaag, Birgit I. Lissenberg-Witte, Marjo S. van der Knaap Natural History of Vanishing White Matter published pages: 274-288, ISSN: 0364-5134, DOI: 10.1002/ana.25287 |
Annals of Neurology 84/2 | 2020-03-24 |
2019 |
Annemieke Aartsma-Rus, Madhuri Hegde, Tawfeg Ben-Omran, Filippo Buccella, Alessandra Ferlini, Pia Gallano, R. Rodney Howell, France Leturcq, Ann S. Martin, Anna Potulska-Chromik, Jonas A. Saute, Wolfgang M. Schmidt, Thomas Sejersen, Sylvie Tuffery-Giraud, Zehra Oya Uyguner, Luci A. Witcomb, Shu Yau, Stanley F. Nelson Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy published pages: 305-313.e14, ISSN: 0022-3476, DOI: 10.1016/j.jpeds.2018.10.043 |
The Journal of Pediatrics 204 | 2020-03-24 |
2019 |
Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A. C. ’t Hoen, Paolo Missier, Hanns Lochmüller Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder published pages: , ISSN: 1059-7794, DOI: 10.1002/humu.23792 |
Human Mutation | 2020-03-24 |
2018 |
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry, David Osumi-Sutherland, Valentina Cipriani, James P Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh Dawkins, Michael Segal, Anna C Jansen, Ahmed Muaz, Willie H Chang, Jenna Bergers Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources published pages: D1018-D1027, ISSN: 0305-1048, DOI: 10.1093/nar/gky1105 |
Nucleic Acids Research 47/D1 | 2020-03-24 |
2019 |
Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz-Wagenblatt, Vincent Timmerman, Nathalie Bonello-Palot, Beate Schlotter-Weigel, Michaela Auer-Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiss, Eric Mah, Nina Weisshaar, Alaa Madi, Kerstin Mohr, Tilo Schlimbach, Rubà M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeiste Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness published pages: 1218-1231.e5, ISSN: 1074-7613, DOI: 10.1016/j.immuni.2019.03.005 |
Immunity 50/5 | 2020-03-24 |
2019 |
Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome published pages: 19-37, ISSN: 2397-8554, DOI: 10.1042/etls20180100 |
Emerging Topics in Life Sciences 3/1 | 2020-03-24 |
2019 |
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation published pages: , ISSN: 2044-5040, DOI: 10.1186/s13395-019-0199-9 |
Skeletal Muscle 9/1 | 2020-03-24 |
2019 |
Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies published pages: 409-415, ISSN: 1473-7175, DOI: 10.1080/14737175.2019.1608824 |
Expert Review of Neurotherapeutics 19/5 | 2020-03-24 |
2019 |
MarÃa-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? published pages: , ISSN: 1750-1172, DOI: 10.1186/s13023-018-0985-1 |
Orphanet Journal of Rare Diseases 14/1 | 2020-03-24 |
2019 |
Giulia Coarelli, Rebecca Schule, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Ludger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D\'Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstoc Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 published pages: e2679-e2690, ISSN: 0028-3878, DOI: 10.1212/wnl.0000000000007606 |
Neurology 92/23 | 2020-03-24 |
2019 |
Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick M Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish published pages: , ISSN: 2041-1723, DOI: 10.1038/s41467-018-07953-w |
Nature Communications 10/1 | 2020-03-24 |
2019 |
Mohammad Ali Farazi Fard, Adriana P. Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez-Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole B. Martuscelli, Dana M. Bis-Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia published pages: 767-773, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2019.03.001 |
The American Journal of Human Genetics 104/4 | 2020-03-24 |
2019 |
Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies published pages: 1051-1068, ISSN: 1554-8627, DOI: 10.1080/15548627.2019.1569930 |
Autophagy 15/6 | 2020-03-24 |
2018 |
Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era published pages: , ISSN: 1750-1172, DOI: 10.1186/s13023-018-0955-7 |
Orphanet Journal of Rare Diseases 13/1 | 2020-03-24 |
2019 |
Maxime Boutry, Sara Morais, Giovanni Stevanin Update on the Genetics of Spastic Paraplegias published pages: , ISSN: 1528-4042, DOI: 10.1007/s11910-019-0930-2 |
Current Neurology and Neuroscience Reports 19/4 | 2020-03-24 |
2018 |
Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report published pages: , ISSN: 1471-2377, DOI: 10.1186/s12883-018-1180-7 |
BMC Neurology 18/1 | 2020-03-24 |
2018 |
Sebastian Köhler Improved ontology-based similarity calculations using a study-wise annotation model published pages: , ISSN: 1758-0463, DOI: 10.1093/database/bay026 |
Database 2018/1 | 2020-03-24 |
2019 |
Judith E. Grolleman, Marcos DÃaz-Gay, Sebastià Franch-Expósito, Sergi CastellvÃ-Bel, Richarda M. de Voer Somatic mutational signatures in polyposis and colorectal cancer published pages: , ISSN: 0098-2997, DOI: 10.1016/j.mam.2019.05.002 |
Molecular Aspects of Medicine | 2020-03-24 |
2019 |
Maria Sofia Falzarano, Alessandra Ferlini Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature published pages: 627, ISSN: 2077-0383, DOI: 10.3390/jcm8050627 |
Journal of Clinical Medicine 8/5 | 2020-03-24 |
2019 |
Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler Phenotero: Annotate as you write published pages: 287-292, ISSN: 0009-9163, DOI: 10.1111/cge.13471 |
Clinical Genetics 95/2 | 2020-03-24 |
2019 |
Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants published pages: W106-W113, ISSN: 0305-1048, DOI: 10.1093/nar/gkz327 |
Nucleic Acids Research 47/W1 | 2020-03-24 |
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