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A 20-Year Journey of Tracing the Development of Web Catalogues for Rare Diseases

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Bioinformatics and Biomedical Engineering (IWBBIO 2023)

Part of the book series: Lecture Notes in Computer Science ((LNBI,volume 13920))

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Abstract

Rare diseases are affecting over 350 million individuals on a worldwide scale. However, studying such diseases is challenging due to the lack of individuals compliant with the study protocols. This unavailability of information raises some challenges when defining the best treatments or diagnosing patients in the early stages. Multiple organizations invested in sharing data and resources without violating patient privacy, which resulted in several platforms focused on aggregating information. Despite the benefits of these solutions, the evolution of data regulations leads to new challenges that may not be fully addressed in such platforms. Therefore, in this paper, we proposed an enhanced version of one of the identified open-source platforms for this purpose. With this work, we were able to propose different strategies for aggregating and sharing information about rare diseases, as well as to analyse the technological evolution when producing tools for biomedical data sharing, namely by analysing the evolution of the selected tool over the last two decades.

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Notes

  1. 1.

    https://www.ejprarediseases.org.

  2. 2.

    https://irdirc.org/.

  3. 3.

    https://www.eurordis.org/.

  4. 4.

    https://rarediseases.org/.

  5. 5.

    https://www.omim.org/.

  6. 6.

    https://bioinformatics.ua.pt/diseasecard/.

  7. 7.

    This work relays on the latest version of DiseaseCard, in which the system core components were completely rebuilt.

  8. 8.

    In this context, a column corresponds to the position in which the value is found, with each comma incrementing the column’s value. The column count starts at zero, so the first column corresponds to column zero.

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Acknowledgements

This work has received funding from the EC under grant agreement 101081813, Genomic Data Infrastructure. J.R.A is funded by the FCT - Foundation for Science and Technology (national funds) under the grant SFRH/BD/147837/2019.

Author information

Authors and Affiliations

  1. IEETA / DETI, LASI, University of Aveiro, Aveiro, Portugal

    João Rafael Almeida & José Luís Oliveira

  2. Department of Computation, University of A Coruña, Coruña, Spain

    João Rafael Almeida

Authors
  1. João Rafael Almeida
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  2. José Luís Oliveira
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Corresponding author

Correspondence to João Rafael Almeida .

Editor information

Editors and Affiliations

  1. University of Granada, Granada, Spain

    Ignacio Rojas

  2. University of Granada, Granada, Spain

    Olga Valenzuela

  3. University of Granada, Granada, Spain

    Fernando Rojas Ruiz

  4. University of Granada, Granada, Spain

    Luis Javier Herrera

  5. University of Granada, Granada, Spain

    Francisco Ortuño

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Almeida, J.R., Oliveira, J.L. (2023). A 20-Year Journey of Tracing the Development of Web Catalogues for Rare Diseases. In: Rojas, I., Valenzuela, O., Rojas Ruiz, F., Herrera, L.J., Ortuño, F. (eds) Bioinformatics and Biomedical Engineering. IWBBIO 2023. Lecture Notes in Computer Science(), vol 13920. Springer, Cham. https://doi.org/10.1007/978-3-031-34960-7_12

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  • DOI: https://doi.org/10.1007/978-3-031-34960-7_12

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