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Why the way we define diseases prevents innovation and precision medicine

Year: 2023
Type: preprint
Abstract: Noncommunicable diseases (NCDs) have become globally abundant, yet the therapeutics we use for them are imprecise. In parallel, identifying new treatments has become more costly than ever due to the ever-aggravating efficacy crisis drug discovery faces. What unites these failures is our ontological classification of diseases, primarily based on descriptive terms. To achieve precision diagnosis and precision therapy in clinical practice, NCDs need to be redefined and subdivided based on their causal molecular mechanisms. However, the inconsistency and incompatibility of the current disease classification systems hinder data integration and analysis towards the characterization of such mechanisms. Here, we explain flaws in the current disease definitions and the dispersion among existing ontologies with the aim of establishing a mechanism-based classification of diseases hence, precision medicine.
DOI: 10.14293/s2199-1006.1.sor-.ppcfydy.v1
Authors: Zeinab M. Mamdouh, Elisa Anastasi, Ahmed A. Hassan, Johannes Boltze, Mahmoud H. Elbatreek, Cristian Nogales, Mayra Pacheco Pachado, Alexandra Petraina, Zina Piper, Alejandro Rodríguez-González, Anil Wipat, Edwin K. Silverman, Ana I Casas, Emre Guney, Harald H.H.W. Schmidt
Institutions: Zagazig University, Maastricht University, Newcastle University, University of Warwick, Universidad Politécnica de Madrid, Brigham and Women's Hospital, Essen University Hospital, Stiftung Universitätsmedizin Essen
Language: English
Open Access status: green
Funders: Corona-Stiftung, European Commission, Bundesministerium für Bildung und Forschung, Ministry of Higher Education, Egypt, HORIZON EUROPE Framework Programme, Horizon 2020, HORIZON EUROPE Health
Awards: An in silico-based approach to improve the efficacy and precision of drug REPurpOsing TRIALs for a mechanism-based patient cohort with predominant cerebro-cardiovascular phenotypes, FERROPath - Ferroptose als grundlegender Pathomechanismus bei Ischämie/Reperfusionsschäden im Gewebe, TP 6: Ferroptose bei Hirnischämie, G3197286488, G3210179189, G434337789, Precision drug REPurpOsing For EUrope and the world, Precision drug REPurpOsing For EUrope and the world, G827384666
OpenAlex ID: W4318776990
Cites: 1
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Related to: 10