The Elsevier SciBite Curation team contributes to international disease classification effort

SciBite / News / The Elsevier SciBite Curation team contributes to international disease classification effort

The Elsevier SciBite Curation team contributed to a large international effort to improve semantic classification of diseases. As described in an article just published by the Genetics journal, our curators Paola Roncaglia and Rachael Huntley helped improve the Mondo disease ontology. Mondo aims to harmonise disease terminologies from multiple sources, making them available in a classification system that is consistent and computable.

Elsevier SciBite curators regularly provide feedback to public resources and ontologies like Mondo, to suggest addition of new classes or improvements in the hierarchy and content. For this Mondo initiative, Paola and Rachael took part in a community curation effort to resolve some incorrect disease classifications. These original issues derived from phenotypic grouping classes in some sources that feed into Mondo, and particularly affected representation of syndromes in Mondo itself.

Paola and Rachael were ideally placed to tackle the issue, each with two decades of ontology development and curation under their belt. They reviewed and improved the ontology placement of dozens of disorders affecting the reproductive and cardiovascular systems, and recommended the addition of several links between Mondo diseases and Human Phenotype Ontology entities.

A correct hierarchy in ontologies is paramount for accurate classification and semantic querying. This enhanced knowledge then cascades downstream to the many tools and projects that use Mondo. For example, the US NIH resources ClinGen and MedGen refer to Mondo as a central authority for defining and curating disease entities, while platforms like Kids First and C-Path’s RDCA-DAP use it to harmonize disease data across large-scale genomic and clinical datasets.

Organizations like Every Cure and IMO Health leverage Mondo to enable artificial intelligence (AI)-driven drug repurposing and enhance the utility of electronic health records. Mondo also collaborates with the Database Center for Life Science in Japan (DBCLS) and the European Molecular Biology Laboratory’s European Bioinformatics Institute in the UK (EMBL-EBI) to support global integration and translation of Mondo. These use-cases highlight the value of ontologies as a community standard, and the importance of involving community expertise in their development.

Our curators’ work on Mondo will also feed into improvements for Elsevier SciBite content. Our solutions make Mondo available to customers, enriched with our proprietary entities and synonyms for improved downstream use in semantic search.

Paola Roncaglia

Scientific Curation Consultant

Paola Roncaglia is a skilled bioinformatician and biomedical ontologist based in Trieste, Italy. With over 20 years of experience, she specializes in semantic enrichment and analysis of large-scale biological data. Currently a Scientific Curation Consultant at SciBite, Paola previously worked as a Gene Ontology Developer at the European Bioinformatics Institute. She holds a Ph.D. in Biophysics and Neurobiology and has made significant contributions to the integration of biological data, resulting in numerous impactful publications.

Rachael Huntley

Lead Scientific Curator, SciBite

Rachael Huntley is Lead Scientific Curator at SciBite with over 20 years biocuration experience. Dr. Huntley received her PhD in plant biochemistry from the University of Cambridge and completed post-doctoral research in both Cambridge, UK and Stanford, USA.

During her time at EMBL-EBI and University College London she contributed to functional annotation of human proteins and microRNAs involved in human health and disease. Throughout her biocuration career, she has worked closely with the Gene Ontology Consortium and major pharmaceutical companies and has contributed to the development of ontologies, biocuration standards and curation tools.

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