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Grant support

This research was funded by project "Data-driven drug repositioning applying graph neural networks (3DR-GNN)" (PID2021-122659OB-I00) from the Spanish Ministerio de Ciencia e Innovacion. Belen Otero Carrasco's work is supported by "Formacion de Personal Investigador" grant (FPI PRE2019-090912) as part of the project "DISNET (Creation and analysis of disease networks for drug repurposing from heterogeneous data sources applied to rare diseases)" (RTI2018-094576-A-I00) from the Spanish Ministerio de Ciencia, Innovacion y Universidades. Lucia Prieto Santamaria's work is supported by "Programa de fomento de la investigacion y la innovacion (Doctorados Industriales)" from Comunidad de Madrid (grant "IND2019/TIC-17159").

Analysis of institutional authors

Otero-Carrasco, BAuthorSantamaria, LpAuthorHernandez, JpcvAuthorRodriguez-Gonzalez, ACorresponding Author

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October 7, 2022
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Repositioning Drugs for Rare Diseases Based on Biological Features and Computational Approaches

Publicated to:Healthcare (Basel). 10 (9): 1784- - 2022-09-01 10(9), DOI: 10.3390/healthcare10091784

Authors: Otero-Carrasco, Belen; Prieto Santamaria, Lucia; Ugarte Carro, Esther; Caraca-Valente Hernandez, Juan Pedro; Rodriguez-Gonzalez, Alejandro

Affiliations

Univ Politecn Madrid, Ctr Tecnol Biomed, Madrid 28660, Spain - Author
Univ Politecn Madrid, ETS Ingenieros Informat, Madrid 28660, Spain - Author

Abstract

Rare diseases are a group of uncommon diseases in the world population. To date, about 7000 rare diseases have been documented. However, most of them do not have a known treatment. As a result of the relatively low demand for their treatments caused by their scarce prevalence, the pharmaceutical industry has not sufficiently encouraged the research to develop drugs to treat them. This work aims to analyse potential drug-repositioning strategies for this kind of disease. Drug repositioning seeks to find new uses for existing drugs. In this context, it seeks to discover if rare diseases could be treated with medicines previously indicated to heal other diseases. Our approaches tackle the problem by employing computational methods that calculate similarities between rare and non-rare diseases, considering biological features such as genes, proteins, and symptoms. Drug candidates for repositioning will be checked against clinical trials found in the scientific literature. In this study, 13 different rare diseases have been selected for which potential drugs could be repositioned. By verifying these drugs in the scientific literature, successful cases were found for 75% of the rare diseases studied. The genetic associations and phenotypical features of the rare diseases were examined. In addition, the verified drugs were classified according to the anatomical therapeutic chemical (ATC) code to highlight the types with a higher predisposition to be repositioned. These promising results open the door for further research in this field of study.

Keywords

Biomedical informaticsDisnet knowledge baseDreifuss muscular-dystrophyDrug repositioningExpressionHereditary hemochromatosisLocked-in syndromeManagementMastocytosisNeuropathyPatientRare diseasesRisk

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Healthcare (Basel) due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2022, it was in position 43/87, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Health Policy & Services. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Leadership and Management.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-08-27:

  • Google Scholar: 4
  • WoS: 2
  • Scopus: 2
  • Europe PMC: 1

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-08-27:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 12.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 13 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 24.6.
  • The number of mentions on the social network X (formerly Twitter): 9 (Altmetric).
  • The number of mentions in news outlets: 2 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (OTERO CARRASCO, BELEN) and Last Author (RODRIGUEZ GONZALEZ, ALEJANDRO).

the author responsible for correspondence tasks has been RODRIGUEZ GONZALEZ, ALEJANDRO.