As 2024 draws to a close, the Mondo team reflects on a year of significant achievements in advancing the Mondo Disease Ontology. This article highlights key milestones, community collaborations, and future plans that solidify Mondo’s role in standardizing disease definitions and facilitating data integration across the biomedical landscape. From reaching its 100th release to expanding its scope to include non-human animal diseases, Mondo continues to evolve as a valuable resource for researchers, clinicians, and patients alike.
Mondo Milestone: 100th Release!
In December 2024, Mondo celebrated its 100th release, a testament to its ongoing development and refinement. Throughout the year, the team addressed and closed 653 GitHub issues with contributions from 110 individuals, including 97 users. This collaborative effort resulted in the creation of 2,078 new Mondo terms, the merging of 82 terms, and the obsoletion of 34 terms. These updates ensure that Mondo remains current and accurate, reflecting the latest scientific knowledge.
Epilepsy Workshop Engages Experts
Mondo hosted a two-part workshop bringing together clinicians, geneticists, and patient advocates to improve the representation of epilepsy diseases within the ontology. This collaborative effort led to the creation of five new terms, with an additional 18 planned for future releases. Discussions focused on specific areas, including immune epilepsies, genetic epilepsies, generalized epilepsies, and epilepsy syndromes, ensuring that Mondo’s classification aligns with the current understanding of these complex conditions. A third workshop is scheduled for January 17, 2025, to continue these discussions.
Curate-athon Closes the Gap on GitHub Open Issues
In November 2024, the Mondo curation team organized a three-day “curate-athon” dedicated to addressing user requests. This productive event resulted in the resolution of 59 issues. The team plans to organize more curate-athons in 2025 to enhance the efficiency and timeliness of addressing user feedback. Contributions from the community are highly valued, and users are encouraged to submit issues via the GitHub issue tracker.
We Need All of the Species: Non-Human Animal Diseases in Mondo
Mondo expanded its scope to include non-human animal diseases, now featuring 2,744 such terms. The team is nearing completion of representing diseases from the Online Mendelian Inheritance in Animals (OMIA), focusing primarily on genetic and hereditary conditions. Future plans include incorporating more common diseases from the Veterinary Nomenclature (VeNom), further broadening Mondo’s applicability.
For the Community, by the Community
Mondo leverages community expertise to curate disease information, including mappings between terminologies and links to curated resources. Expert groups maintain preferred names for diseases, ensuring that the ontology reflects the most up-to-date and relevant terminology. Workflows were created to integrate community-maintained information directly into Mondo, improving re-use of work and limiting effort duplication. This collaborative approach strengthens the sense of community and conviviality. Current community partners include NORD, GARD, MedGen, UMLS, NANDO, and ClinGen.
A Standing Ovation for the Mondo Outreach Call Presenters
Mondo expresses gratitude to the presenters and participants of the Mondo Outreach calls. Special thanks are extended to Sierra Moxon (LBL), Zoe Pendlington (Open Targets / EBI), Julie Tahraoui (Orphanet), Imke Tammen and Frank Nicolas (OMIA), Bryan Laraway (N3C), Brian Schilder (Imperial College London), Toyofumi Fujiwara (DBCLS), and Nicole Vasilevsky (Critical Path Institute) for their contributions.
New Institutions, New Connections
In April 2024, the Translational and Integrative Sciences Lab (TISLab) moved to the University of North Carolina at Chapel Hill (UNC) School of Medicine Department of Genetics. This transition brings the team closer to the Clinical Genome Resource (ClinGen) team, fostering collaboration and facilitating upcoming updates in the representation of genetic diseases in Mondo. The team also welcomes Yousif Shwetar, a student at the UNC Medical Scientist Training Program (MSTP), who brings his medical expertise and interest in eye disorders to the team.
Plans for 2025: Continuing Our Mondo Community Engagement
Mondo plans to host several workshops in 2025, including reviews of epilepsy diseases, retinal disorders, and immunological diseases. The community is invited to attend and participate in these workshops. Updates and logistics will be shared via the user mailing list. Sign up at https://groups.google.com/g/mondo-users
Join the Mondo Community
Engage with Mondo through various channels:
Mailing list: mondo-users-subscribe@googlegroups.com
GitHub issue tracker: https://github.com/monarch-initiative/mondo
Outreach calls: https://mondo.monarchinitiative.org/pages/workshop/#outreach
Other Resources
Introduction to the Mondo project presentation
Mondo website: https://mondo.monarchinitiative.org/
Funding
Mondo is supported by grants from the NIH Office of the Director and other NIH institutes.
In conclusion, 2024 was a landmark year for the Mondo Disease Ontology, marked by significant advancements in data coverage, community engagement, and collaborative initiatives. From achieving its 100th release to expanding its focus to include non-human animal diseases, Mondo continues to evolve as an essential resource for the biomedical community. As we look ahead to 2025, Mondo remains committed to fostering collaboration, enhancing data accuracy, and empowering researchers, clinicians, and patients with the knowledge they need to advance disease understanding and improve healthcare outcomes. We are thankful for the support of the Health Talk community, and look forward to working with you next year.