Have a personal or library account? Click to login
A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR Cover

A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR

Data Science Journal
Volume 22 (2023): Issue 1
By: Philip van Damme,  Pablo Alarcón Moreno,  César H. Bernabé,  Alberto Cámara Ballesteros,  Clémence M. A. Le Cornec,  Bruna Dos Santos Vieira,  K. Joeri van der Velde,  Shuxin Zhang,  Claudio Carta,  Ronald Cornet,  Peter A.C. ’t Hoen,  Annika Jacobsen,  Morris A. Swertz,  Marco Roos and  Nirupama Benis  
Open Access
|Jun 2023

References

  1. 1Bonino da Silva Santos, LO, Burger, K, Kaliyaperumal, R and Wilkinson, MD. 2023. FAIR data point: a FAIR-oriented approach for metadata publication. Data Intelligence, 5(1): 163–183. DOI: 10.1162/dint_a_00160
    Back to article
  2. 2Boulanger, V, Schlemmer, M, Rossov, S, Seebald, A and Gavin, P. 2020. Establishing patient registries for rare diseases: rationale and challenges. Pharmaceutical Medicine, 34(3): 185–190. DOI: 10.1007/s40290-020-00332-1
    Back to article
  3. 3CDISC. 2022. Clinical Data Interchange Standards Consortium Operational Data Model. https://www.cdisc.org/standards/data-exchange/odm
    Back to article
  4. 4Czech National Infrastructure for Biological Data 2022. ELIXIR CZ. https://www.elixir-czech.cz/
    Back to article
  5. 5Dos Santos Vieira, B, Bernabé, CH, Zhang, S, et al. 2022. Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European Reference Network registries. Orhpanet Journal of Rare Diseases. DOI: 10.21203/rs.3.rs-1572508/v1
    Back to article
  6. 6EJP RD. 2022a. CDE-in-box. https://github.com/ejp-rd-vp/cde-in-box
    Back to article
  7. 7EJP RD. 2022b. Semantic data model of the set of common data elements for rare disease registration. https://github.com/ejp-rd-vp/CDE-semantic-model
    Back to article
  8. 8EJP RD. 2022c. Metadata for EJP rare disease patient registries, biobanks and catalogs. https://github.com/ejp-rd-vp/resource-metadata-schema
    Back to article
  9. 9EJP RD. 2022d. FAIRopoly—FAIRification guidance for ERN patient registries. https://www.ejprarediseases.org/fairopoly/
    Back to article
  10. 10EJP RD. 2022e. ERN registries generic informed consent forms. https://www.ejprarediseases.org/ern-registries-generic-icf/
    Back to article
  11. 11ELIXIR-CONVERGE. 2022. The Research Data Management toolkit for Life Sciences (RDMkit). https://rdmkit.elixir-europe.org/
    Back to article
  12. 12European Commission. 2017. European Reference Networks: working for patients with rare, low-prevalence and complex diseases. https://health.ec.europa.eu/publications/brochure-european-reference-networks-rare-and-complex-diseases_en
    Back to article
  13. 13European Commission. 2019. Set of common data elements. https://eu-rd-platform.jrc.ec.europa.eu/set-of-common-data-elements_en
    Back to article
  14. 14European Commission. 2022a. Rare diseases. https://health.ec.europa.eu/non-communicable-diseases/steering-group/rare-diseases_en
    Back to article
  15. 15European Commission. 2022b. European Platform on Rare Disease Registration metadata repository (ERDRI.mdr). https://eu-rd-platform.jrc.ec.europa.eu/mdr/
    Back to article
  16. 16European Medicines Agency. 2022. Patient registries. https://www.ema.europa.eu/en/human-regulatory/post-authorisation/patient-registries
    Back to article
  17. 17FAIRplus. 2022. The FAIR Cookbook. https://faircookbook.elixir-europe.org/
    Back to article
  18. 18Fink, AK, Loeffler, DR, Marshall, BC, Goss, CH and Morgan, WJ. 2017. Data that empower: the success and promise of CF patient registries. Pediatric Pulmonology, 52: S44–S51. DOI: 10.1002/ppul.23790
    Back to article
  19. 19Groenen, KHJ, Jacobsen, A, Kersloot, MG, et al. 2021 The de novo FAIRification process of a registry for vascular anomalies. Orphanet Journal of Rare Diseases, 16. DOI: 10.1186/s13023-021-02004-y
    Back to article
  20. 20HL7. 2022 Health Level 7 Fast Healthcare Interoperability Resources. https://www.hl7.org/fhir/
    Back to article
  21. 21Hooft, RWW. 2019. Data stewardship mindmap. DOI: 10.5281/zenodo.2614819
    Back to article
  22. 22Hudson-Vitale, C and Moulaison-Sandy, H. 2019. Data management plans: a review. DESIDOC Journal of Library and Information Technology, 39(6): 322–328. DOI: 10.14429/djlit.39.06.15086
    Back to article
  23. 23Inserm. 2022. European Joint Programme on Rare Diseases. https://www.ejprarediseases.org/
    Back to article
  24. 24Jacobsen, A, de Miranda Azevedo, R, Juty, N, et al. 2020. FAIR principles: interpretations and implementation considerations. Data Intelligence, 2(1–2): 10–29. DOI: 10.1162/dint_r_00024
    Back to article
  25. 25Jacobsen, A, Kaliyaperumal, R, Bonino da Silva Santos, LO, Mons, B, Schultes, E, Roos, M and Thompson, M. 2020. A generic workflow for the data FAIRification process. Data Intelligence, 2(1–2): 56–65. DOI: 10.1162/dint_a_00028
    Back to article
  26. 26Jones, S, Pergl, R, Hooft, R, et al. 2020. Data management planning: how requirements and solutions are beginning to converge. Data Intelligence, 2(1–2): 208–219. DOI: 10.1162/dint_a_00043
    Back to article
  27. 27Kaliyaperumal, R, Wilkinson, MD, Moreno, PA, et al. 2022. Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data. Journal of Biomedical Semantics, 13. DOI: 10.1186/s13326-022-00264-6
    Back to article
  28. 28Kodra, Y, Weinbach, J, Posada-de-la-Paz, M, et al. 2018. Recommendations for improving the quality of rare disease registries. International Journal of Environmental Research and Public Health, 15(8): 1644. DOI: 10.3390/ijerph15081644
    Back to article
  29. 29MeisterLabs. 2022. MindMeister. https://www.mindmeister.com/
    Back to article
  30. 30Mons, B. 2018. Data Stewardship for Open Science. New York: Chapman and Hall/CRC. DOI: 10.1201/9781315380711
    Back to article
  31. 31OHDSI. 2022. Observational Medical Outcomes Partnership Common Data Model. https://www.ohdsi.org/data-standardization/
    Back to article
  32. 32Pergl, R, Hooft, R, Suchánek, M, Knaisl, V and Slifka, J. 2019. ‘Data Stewardship Wizard’: a tool bringing together researchers, data stewards, and data experts around data management planning. Data Science Journal, 18(1): 59. DOI: 10.5334/dsj-2019-059
    Back to article
  33. 33Roos, M, Gray, AJG, Waagmeester, A, et al. 2014. Bring Your Own Data workshops: a mechanism to aid data owners to comply with Linked Data best practices. https://ceur-ws.org/Vol-1320/paper_36.pdf
    Back to article
  34. 34Wilkinson, MD, Dumontier, M, Aalbersberg, IJ, et al. 2016. Comment: the FAIR guiding principles for scientific data management and stewardship. Scientific Data, 3. DOI: 10.1038/sdata.2016.18
    Back to article
  35. 35Williams, M, Bagwell, J and Zozus, MN. 2017. Data management plans, the missing perspective. Journal of Biomedical Informatics, 71: 130–142. DOI: 10.1016/j.jbi.2017.05.004
    Back to article
DOI: https://doi.org/10.5334/dsj-2023-012 | Journal eISSN: 1683-1470
Journal RSS Feed
Language: English
Submitted on: Nov 30, 2022
Accepted on: Apr 26, 2023
Published on: Jun 5, 2023
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
FAIR data stewardship,
data management planning,
rare diseases,
European Reference Networks,
FAIR data,
patient registries

© 2023 Philip van Damme, Pablo Alarcón Moreno, César H. Bernabé, Alberto Cámara Ballesteros, Clémence M. A. Le Cornec, Bruna Dos Santos Vieira, K. Joeri van der Velde, Shuxin Zhang, Claudio Carta, Ronald Cornet, Peter A.C. ’t Hoen, Annika Jacobsen, Morris A. Swertz, Marco Roos, Nirupama Benis, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

Previous articleVolume 22 (2023): Issue 1Next article