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European Joint Programme on Rare Diseases

Deliverables

Fourth Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates

Other lead beneficiaries ANR 11 FFRD 12 and ISCIII 44Public Call documents JTC20192022 call text guidelines for applicants proposal templates due at month 35

First Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools

Other lead beneficiary UMCG (35) First Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools due at month 12

Third Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools

Other lead beneficiary UMCG 35Third Report on processed genomephenome datasets and multiomics use cases analysed including description of new cloud and online analysis functionalities and tools due at month 36

First Report on course on interpretation of genetic variants and quality standards

First Report on course on interpretation of genetic variants and quality standards due at month 12

Second Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates

Other lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at month 11

First Report on ExPRESS

First Report on ExPRESS EURORDIS Summer School due at month 12

Public Call document for Networking scheme

Other lead beneficiary: CSO/MOH (78) Public Call document for Networking scheme

First Report on International course on undiagnosed diseases

First Report on International course on undiagnosed diseases due at month 24

Final list of prioritization criteria

Other lead beneficiary FTELE (25) Final list of prioritization criteria

Second List of research and innovation needs requiring medium- or long-term approach and related Task Forces

List of research and innovation needs requiring medium- or long-term approach and related Task Forces due at month 18

Second Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools

Other lead beneficiary UMCG (35) Second Report on processed genome-phenome datasets and multi-omics use cases analysed, including description of new cloud and online analysis functionalities and tools due at month 24

Third report from the face-to-face ExCom and Policy Board meeting

Report from the face-to-face ExCom and Policy Board meeting due at Month 31

Report on core set of unified FAIR data standards

Report on core set of unified FAIR data standards

Report from the Kick-off meeting

Report from the Kick-off meeting

First RE(ACT) Congress report

First RE(ACT) Congress report due at M16

List of first phase projects financed

List of first phase projects financed

Draft content of the online academic course

Draft content of the online academic course

Set of template agreements for EJP RD website

Set of template agreements for EJP RD website

Third Analysis of national state of play and alignment process with EJP RD

Other lead beneficiary MUW 38Analysis of national state of play and alignment process with EJP RD due at month 32

Third Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates

Other lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at mont 23

First Report on sample data management training workshops

First Report on sample data management training workshops due at month 12

EJP RD ERN training programmes

EJP RD ERN training programmes

First Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates

Other lead beneficiaries: ANR (11), FFRD (12) and ISCIII (44) Public Call documents JTC2019-2022: call text, guidelines for applicants, proposal templates due at month 1

Call documents for validation

Call documents for validation

Second Analysis of national state of play and alignment process with EJP RD

Other lead beneficiary MUW (38) Analysis of national state of play and alignment process with EJP RD due at month 21

First Scoping paper

Other lead beneficiaries: ISCIII (44) and INSERM (1) Scoping paper due at Month 7

Second Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting

Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting update at month 21

Results of survey on preferences, needs and resources from the ERNs ecosystem

Results of survey on preferences, needs and resources from the ERNs ecosystem

First Report on core set of FAIR software tools and on extended set of unified FAIR data standards, applied in EJP RD

First Report on core set of FAIR software tools and on extended set of unified FAIR data standards applied in EJP RD due at month 30

First Report of Orphanet nomenclature training for trainers and national trainings

First Report of Orphanet nomenclature training for trainers and national trainings due at month 14

First Report from strategic workshop with national policy makers

Other lead beneficiary MUW 38Report from strategic workshop with national policy makers due at month 34

Prioritization scheme including decision-making process

Other lead beneficiary FTELE (25) Prioritization scheme including decision-making process

Report on the State of the Art of existing resources

Report on the State of the Art of existing resources

First List of funded networks in Networking scheme

List of funded networks in Networking scheme due at month 21

First Analysis of national state of play and alignment process with EJP RD

Other lead beneficiary MUW (38) Analysis of national state of play and alignment process with EJP RD due at Month 9

First Report on International course on Rare Disease Registries and FAIRification of data at source

First Report on International course on Rare Disease Registries and FAIRification of data at source due at month 12

Second Scoping paper

Other lead beneficiaries ISCIII (44) and INSERM (1) Scoping paper due at month 19

First Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting

Annual strategic report and Action plan for Pillar 2, including: Systematic surveys reports, QMS of Pillar 2 description, GDPR compliance report and sustainability planning reporting due at M9

First Annual report on implementation of training programs

First Annual reports on implementation of training programs due at month 13

Third Scoping paper

Other lead beneficiaries ISCIII (44) and INSERM (1) Scoping paper due at month 31

First report from the face-to-face ExCom and Policy Board meeting

Report from the face-to-face ExCom and Policy Board meeting due at M7

First Report on EURORDIS’ Leadership Programme

First Report on EURORDIS’ Leadership Programme due at month 12

First Report on training of patient representatives on scientific innovation and translational research in RD

First Report on training of patient representatives on scientific innovation and translational research in RD due at month 24

Second report from the face-to-face ExCom and Policy Board meeting

Report from the face-to-face ExCom and Policy Board meeting due at M19

Second update Virtual platform of RD resources annotated with EJP ontological model

Second update of the Virtual platform of RD resources annotated with EJP ontological model due at month 36

EJP RD website

EJP RD website

EJP RD Newsletter

EJP RD Newsletter

Virtual platform of RD resources annotated with EJP ontological model

First version of the Virtual platform of RD resources annotated with EJP ontological model due at month 12

First update Virtual platform of RD resources annotated with EJP ontological model

First update of the Virtual platform of RD resources annotated with EJP ontological model due at month 24

First Ontological model of resources metadata

First Ontological model of resources metadata due at mont 12

First version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation

Other lead beneficiary ELIXIR (76) First version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 12

Third version Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation

Other lead beneficiary ELIXIR 76Third version of Additional facilities integrated to resources regarding data deposition and access including user guidelines and documentation due at month 36

Second version Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation

Other lead beneficiary: ELIXIR (76) Second version of Additional facilities integrated to resources regarding data deposition and access, including user guidelines and documentation due at month 24

Second Ontological model of resources metadata

Second Ontological model of resources metadata due at month 24

Third Ontological model of resources metadata

Third Ontological model of resources metadata due at month 36

Searching for OpenAIRE data...

Publications

Variant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome

Author(s): Ivana Dzinovic, Matej Škorvánek, Petra Pavelekova, Chen Zhao, Boris Keren, Sandra Whalen, Somayeh Bakhtiari, Sheng Chih Jin, Michael C. Kruer, Robert Jech, Juliane Winkelmann, Michael Zech
Published in: Annals of Clinical and Translational Neurology, 2021, ISSN 2328-9503
Publisher: Wiley
DOI: 10.1002/acn3.51335

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Author(s): Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo Paula Estephan, Kiran Polavarapu, Peter A. C. ’t Hoen, Paolo Missier, Hanns Lochmüller
Published in: Human Mutation, 40/10, 2019, Page(s) 1797-1812, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/humu.23792

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

Author(s): Gijs A. C. Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, María‐Isabel Tejada, Hester Y. Kroes, Rutger A. J. Nievelstein, Elise Brimble, Maria Ruzhnikov, Felix Claverie‐Martin, Maria Szczepańska, Martin Ćuk, Femke Latta, Martin Konrad, Luis A. Martínez‐Cruz, René J. M. Bindels, Joost G. J. Hoenderop, Karl‐Peter Schlingmann, J
Published in: Human Mutation, 2021, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/humu.24182

Evaluating FAIR maturity through a scalable, automated, community-governed framework

Author(s): Mark D. Wilkinson, Michel Dumontier, Susanna-Assunta Sansone, Luiz Olavo Bonino da Silva Santos, Mario Prieto, Dominique Batista, Peter McQuilton, Tobias Kuhn, Philippe Rocca-Serra, Mercѐ Crosas, Erik Schultes
Published in: Scientific Data, 6/1, 2019, ISSN 2052-4463
Publisher: Nature
DOI: 10.1038/s41597-019-0184-5

Ensembl 2021

Author(s): Kevin L Howe, Premanand Achuthan, James Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Andrey G Azov, Ruth Bennett, Jyothish Bhai, Konstantinos Billis, Sanjay Boddu, Mehrnaz Charkhchi, Carla Cummins, Luca Da Rin Fioretto, Claire Davidson, Kamalkumar Dodiya, Bilal El Houdaigui, Reham Fatima, Astrid Gall, Carlos Garcia Giron, Tiago Grego, Cristina Guijarro-Clarke, Lea
Published in: Nucleic Acids Research, 49/D1, 2020, Page(s) D884-D891, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkaa942

Detection of Telomeric DNA:RNA Hybrids Using TeloDRIP-qPCR

Author(s): Ilaria Rosso, Fabrizio d’Adda di Fagagna
Published in: International Journal of Molecular Sciences, 21/24, 2020, Page(s) 9774, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21249774

The case for open science: rare diseases

Author(s): Yaffa R Rubinstein, Peter N Robinson, William A Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth, Rebecca M Goodwin, Stephen C Groft, Mats G Hansson, Nomi L Harris, Vojtech Huser, Deborah Mascalzoni, Julie A McMurry, Matthew Might, Christoffer Nellaker, Barend Mons, Dina N Paltoo, Jonathan Pevsner, Manuel Posada, Alison P Rockett-Frase, Marco Roos, Tamar B Rubinstein, Domenica Taruscio, Esther
Published in: JAMIA Open, 3/3, 2020, Page(s) 472-486, ISSN 2574-2531
Publisher: Oxford Academic
DOI: 10.1093/jamiaopen/ooaa030

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Author(s): Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebas
Published in: Clinical Genetics, 2021, ISSN 0009-9163
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/cge.13946

WikiPathways: connecting communities

Author(s): Marvin Martens, Ammar Ammar, Anders Riutta, Andra Waagmeester, Denise N Slenter, Kristina Hanspers, Ryan A. Miller, Daniela Digles, Elisson N Lopes, Friederike Ehrhart, Lauren J Dupuis, Laurent A Winckers, Susan L Coort, Egon L Willighagen, Chris T Evelo, Alexander R Pico, Martina Kutmon
Published in: Nucleic Acids Research, 49/D1, 2020, Page(s) D613-D621, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkaa1024

Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

Author(s): Corinna Grasemann, Marina Mordenti, Inês Alves, Rebecca Skarberg, Ondrej Soucek, Marco Roos, M. Kassim Javaid, S. Faisal Ahmed, Agnès Lignart, Klaus Mohnike, Wolfgang Högler, Luca Sangiorgi, Natasha M. Appelman-Dijkstra
Published in: Bone Reports, 13, 2020, Page(s) 100318, ISSN 2352-1872
Publisher: Elsevier Inc.
DOI: 10.1016/j.bonr.2020.100318

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Author(s): Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo
Published in: Scientific Data, 8/1, 2021, Page(s) 10, ISSN 2052-4463
Publisher: Nature
DOI: 10.1038/s41597-020-00794-7

A Generic Workflow for the Data FAIRification Process

Author(s): Annika Jacobsen, Rajaram Kaliyaperumal, Luiz Olavo Bonino da Silva Santos, Barend Mons, Erik Schultes, Marco Roos, Mark Thompson
Published in: Data Intelligence, 2/1-2, 2020, Page(s) 56-65, ISSN 2641-435X
Publisher: The MIT PressJournals
DOI: 10.1162/dint_a_00028

FAIR Principles: Interpretations and Implementation Considerations

Author(s): Annika Jacobsen, Ricardo de Miranda Azevedo, Nick Juty, Dominique Batista, Simon Coles, Ronald Cornet, Mélanie Courtot, Mercè Crosas, Michel Dumontier, Chris T. Evelo, Carole Goble, Giancarlo Guizzardi, Karsten Kryger Hansen, Ali Hasnain, Kristina Hettne, Jaap Heringa, Rob W.W. Hooft, Melanie Imming, Keith G. Jeffery, Rajaram Kaliyaperumal, Martijn G. Kersloot, Christine R. Kirkpatrick, Tobias K
Published in: Data Intelligence, 2/1-2, 2020, Page(s) 10-29, ISSN 2641-435X
Publisher: The MIT PressJournals
DOI: 10.1162/dint_r_00024

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Author(s): K. Joeri Velde, Sander Hoek, Freerk Dijk, Dennis Hendriksen, Cleo C. Diemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema‐Raddatz, Morris A. Swertz
Published in: Advanced Genetics, 1/1, 2020, Page(s) e10023, ISSN 2641-6573
Publisher: Wiley
DOI: 10.1002/ggn2.10023

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author(s): Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler
Published in: The Journal of Molecular Diagnostics, 22/9, 2020, Page(s) 1205-1215, ISSN 1525-1578
Publisher: American Society for Investigative Pathology
DOI: 10.1016/j.jmoldx.2020.06.008

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome

Author(s): Ryan A. Miller, Friederike Ehrhart, Lars M. T. Eijssen, Denise N. Slenter, Leopold M. G. Curfs, Chris T. Evelo, Egon L. Willighagen, Martina Kutmon
Published in: Frontiers in Genetics, 10, 2019, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2019.00059

DMD – BIOMARKERS & OUTCOME MEASURES

Author(s): I. Verhaart, P. 'tHoen, M. Roos, E. Vroom
Published in: Neuromuscular Disorders, 30, 2020, Page(s) S86, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2020.08.137

The “A” of FAIR – As Open as Possible, as Closed as Necessary

Author(s): Annalisa Landi, Mark Thompson, Viviana Giannuzzi, Fedele Bonifazi, Ignasi Labastida, Luiz Olavo Bonino da Silva Santos, Marco Roos
Published in: Data Intelligence, 2/1-2, 2020, Page(s) 47-55, ISSN 2641-435X
Publisher: The MIT PressJournals
DOI: 10.1162/dint_a_00027

10th European Conference on Rare Diseases & Orphan Products (ECRD 2020)

Author(s): Marco Roos, Mark D. Wilkinson, Ronald Cornet, Deborah Mascalzoni, Veronica Popa, Ian Harrow,Claudio Carta, Yaffa R. Rubinstein, Dipak Kalra, Ana Rath, Victoria Hedley, Gülçin Gümüş
Published in: Orphanet Journal of Rare Diseases, 15/S1, 2020, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-020-01550-1