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Solve-RD SIGNED

Solving the unsolved Rare Diseases

Total Cost €

EC-Contrib. €

Partnership

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Outcomes and
results

Solve-RD project word cloud

Explore the words cloud of the Solve-RD project. It provides you a very rough idea of what is the project "Solve-RD" about.

mechanisms diagnostic experts gene collect functional patients group strategies disease put yield core diseases omis molecular matchmaking patterns genetic clinicians brokerage discoverer pursued tackle 5 ambitions ultra exome rare researcher rd clinical unclassified patient time 800 19 therapy data innovative mips vii genes motivated exomes peculiar phenotype pursue structure expert verify screening chance unsolved geneticists secured utility phenotypes visionary edge newly designed infrastructures anticipate formed bioinformatics basic translational erns first web technologies re cutting genomes sophisticated omics connecting matching 24 diagnostics combined clear cohort entire

Project "Solve-RD" data sheet

The following table provides information about the project.

Coordinator	EBERHARD KARLS UNIVERSITAET TUEBINGEN Organization address address: GESCHWISTER-SCHOLL-PLATZ city: TUEBINGEN postcode: 72074 website: www.uni-tuebingen.de contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.
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

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	EBERHARD KARLS UNIVERSITAET TUEBINGEN EBERHARD KARLS UNIVERSITAET TUEBINGEN Organization address address: GESCHWISTER-SCHOLL-PLATZ city: TUEBINGEN postcode: 72074 website: www.uni-tuebingen.de contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	DE (TUEBINGEN)	coordinator	2˙753˙262.00
2	STICHTING KATHOLIEKE UNIVERSITEIT STICHTING KATHOLIEKE UNIVERSITEIT Organization address address: GEERT GROOTEPLEIN NOORD 9 city: NIJMEGEN postcode: 6525 EZ website: www.radboudumc.nl contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	NL (NIJMEGEN)	participant	4˙690˙345.00
3	FUNDACIO CENTRE DE REGULACIO GENOMICA FUNDACIO CENTRE DE REGULACIO GENOMICA Organization address address: CARRER DOCTOR AIGUADER 88 city: BARCELONA postcode: 8003 website: www.crg.es contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	ES (BARCELONA)	participant	1˙505˙131.00
4	INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE Organization address address: RUE DE TOLBIAC 101 city: PARIS postcode: 75654 website: www.inserm.fr contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	FR (PARIS)	participant	1˙112˙003.00
5	UNIVERSITY OF LEICESTER UNIVERSITY OF LEICESTER Organization address address: UNIVERSITY ROAD city: LEICESTER postcode: LE1 7RH website: www.le.ac.uk contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (LEICESTER)	participant	937˙500.00
6	ACADEMISCH ZIEKENHUIS GRONINGEN ACADEMISCH ZIEKENHUIS GRONINGEN Organization address address: HANZEPLEIN 1 city: GRONINGEN postcode: 9713 GZ website: www.umcg.nl contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	NL (GRONINGEN)	participant	650˙000.00
7	MANCHESTER UNIVERSITY NHS FOUNDATION TRUST MANCHESTER UNIVERSITY NHS FOUNDATION TRUST Organization address address: OXFORD ROAD city: MANCHESTER postcode: M13 9WL website: www.cmft.nhs.uk contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (MANCHESTER)	participant	435˙900.00
8	UNIVERSITY OF NEWCASTLE UPON TYNE UNIVERSITY OF NEWCASTLE UPON TYNE Organization address address: KINGS GATE city: NEWCASTLE UPON TYNE postcode: NE1 7RU website: http://www.ncl.ac.uk/ contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (NEWCASTLE UPON TYNE)	participant	434˙591.00
9	EURORDIS - EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION EURORDIS - EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION Organization address address: RUE DIDOT 96 city: Paris postcode: 75014 website: www.eurordis.org contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	FR (Paris)	participant	375˙000.00
10	CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON Organization address address: BOULEVARD MAL DE LATTRE DE TASSIGNY 2 city: DIJON postcode: 21000 website: www.chu-dijon.fr contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	FR (DIJON)	participant	334˙250.00
11	THE JACKSON LABORATORY NON PROFIT CORPORATION THE JACKSON LABORATORY NON PROFIT CORPORATION Organization address address: MAIN STREET 610 city: BAR HARBOR postcode: 4609 website: www.jax.org contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	US (BAR HARBOR)	participant	334˙137.00
12	UNIVERSITY COLLEGE LONDON UNIVERSITY COLLEGE LONDON Organization address address: GOWER STREET city: LONDON postcode: WC1E 6BT website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (LONDON)	participant	275˙000.00
13	CHARITE - UNIVERSITAETSMEDIZIN BERLIN CHARITE - UNIVERSITAETSMEDIZIN BERLIN Organization address address: Chariteplatz 1 city: BERLIN postcode: 10117 website: www.charite.de contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	DE (BERLIN)	participant	256˙250.00
14	IPATIMUP - INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO PCUP IPATIMUP - INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO PCUP Organization address address: RUA JULIO AMARAL DE CARVALHO 45 city: PORTO postcode: 4200 135 website: http://www.ipatimup.pt contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	PT (PORTO)	participant	250˙000.00
15	UNIVERSITATSKLINIKUM BONN UNIVERSITATSKLINIKUM BONN Organization address address: VENUSBERG-CAMPUS 1 city: BONN postcode: 53127 website: www.ukb.uni-bonn.de contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	DE (BONN)	participant	250˙000.00
16	KING'S COLLEGE LONDON KING'S COLLEGE LONDON Organization address address: STRAND city: LONDON postcode: WC2R 2LS website: www.kcl.ac.uk contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (LONDON)	participant	187˙824.00
17	SHEFFIELD HALLAM UNIVERSITY SHEFFIELD HALLAM UNIVERSITY Organization address address: HOWARD STREET CITY CAMPUS city: SHEFFIELD postcode: S1 1WB website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (SHEFFIELD)	participant	140˙675.00
18	UNIVERSITEIT ANTWERPEN UNIVERSITEIT ANTWERPEN Organization address address: PRINSSTRAAT 13 city: ANTWERPEN postcode: 2000 website: www.ua.ac.be contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	BE (ANTWERPEN)	participant	131˙250.00
19	EUROPEAN MOLECULAR BIOLOGY LABORATORY EUROPEAN MOLECULAR BIOLOGY LABORATORY Organization address address: Meyerhofstrasse 1 city: HEIDELBERG postcode: 69117 website: http://www.embl.de contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	DE (HEIDELBERG)	participant	125˙000.00
20	UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI Organization address address: VIALE ABRAMO LINCOLN 5 city: CASERTA postcode: 81100 website: www.unina2.it contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	IT (CASERTA)	participant	75˙000.00
21	UNIVERSITA DEGLI STUDI DI FERRARA UNIVERSITA DEGLI STUDI DI FERRARA Organization address address: VIA ARIOSTO 35 city: FERRARA postcode: 44121 website: www.unife.it contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	IT (FERRARA)	participant	56˙250.00
22	UNIVERZITA KARLOVA UNIVERZITA KARLOVA Organization address address: OVOCNY TRH 560/5 city: PRAHA 1 postcode: 116 36 website: www.cuni.cz contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	CZ (PRAHA 1)	participant	52˙250.00
23	CENTRAL MANCHESTER UNIVERSITY HOSPITALS NHS FOUNDATION TRUST CENTRAL MANCHESTER UNIVERSITY HOSPITALS NHS FOUNDATION TRUST Organization address address: OXFORD ROAD - TRUS HQ - COBBETT HOUSE city: MANCHESTER postcode: M13 9WL website: n.a. contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	UK (MANCHESTER)	participant	0.00

Map

Project objective

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.

Deliverables

List of deliverables.
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.

Publications

List of publications.
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	VÃ©ronique 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. LourenÃ§o, 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 TÃ¶pf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A. C. â€™t Hoen, Paolo Missier, Hanns LochmÃ¼ller 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 KÃ¶hler, Leigh Carmody, Nicole Vasilevsky, Julius OÂ 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. LÃ¶scher, Markus Reindl, Florian Weiss, Eric Mah, Nina Weisshaar, Alaa Madi, Kerstin Mohr, Tilo Schlimbach, RubÃ M.-H. Velasco CÃ¡rdenas, Jonas Koeppel, Florian GrÃ¼nschlÃ¤ger, Lisann MÃ¼ller, 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, GisÃ¨le Bonne, Paolo Missier, Hanns LochmÃ¼ller 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-JesÃºs 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 SchÃ¶ls, 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, MichÃ¨le 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 QuintÃ¡ns, AndrÃ©s OrdÃ³Ã±ez-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 LochmÃ¼ller 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 KÃ¶hler 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, SebastiÃ Franch-ExpÃ³sito, 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 KÃ¶hler 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 KÃ¶hler, 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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