Ontologies as Tools for Aligning and Harmonizing Neuromuscular Disease Data

Topic:

Clinical Management

Poster Number: 206 M

Author(s):

Nicole Vasilevsky, PhD, Critical Path Institute, Sergi Aguiló Castillo, Radboud university medical center, Neil Bennett, TREAT-NMD, Anita Burgun, University of Paris Cité, Alberto Camara Ballesteros, European Joint Programme on Rare Diseases, Ronald Cornet, Amsterdam University Medical Center, Sara Curiel Manzanas, Universidad Politécnica de Madrid, Erin DeSpain, MPA, VCU Health, Cynthia Gagnon, Université de Sherbrooke, Marcel Heidemann, SMARTSTREAM.TV GmbH - Ein Unternehmen der ProSiebenSat. 1 Media SE, Petar Horki, Clinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine, University of Fr, Nicholas Johnson, MD, Virginia Commonwealth University, Richmond, Virginia, USA , Martijn G. Kersloot, Amsterdam University Medical Center, Ruby Langeslay, MPH, VCU Health, Hanns Lochmüller, MD, PhD, Children’s Hospital of Eastern Ontario Research Institute, Daniel Olson, Critical Path Institute, Marco Roos, Leiden University Medical Center, Benedikt Schoser, MD, PhD, Friedrich-Baur-Institute, Dep. of Neurology LMU Clinics, Ludwig-Maximilians University, Germany, Lilli Schuckert, Amsterdam University Medical Center, Adrian Tassoni, University of Freiburg, Rachel Thompson, Children’s Hospital of Eastern Ontario Research Institute, Daphne Wijnbergen, Leiden University Medical Center, Han Xie, MS, VCU Health, Peter-Bram A.C. 't Hoen, Radboud university medical center, Smith Heavner, PhD, RN, FCCM, Critical Path Institute

Biomedical ontologies are structured, computable representations of biological and clinical concepts that enable consistent description, integration, and analysis of data across studies and platforms. In neuromuscular disease research, where data are often sparse, heterogeneous, and distributed across multiple sources, ontologies play a critical role in supporting interoperability, reuse, and aggregation of data.

At the Critical Path Institute (C-Path), we leverage community-developed ontologies such as the Human Phenotype Ontology (HPO) and the Mondo Disease Ontology to structure and harmonize rare disease data within the data sharing platform, Rare Disease Cures Accelerator–Data and Analytics Platform (RDCA-DAP). HPO provides a standardized vocabulary representing clinical phenotypes, while Mondo offers a unified disease classification that integrates multiple disease terminologies. Together, these ontologies enable disparate datasets—including patient registries, natural history studies, and clinical data—to be mapped to shared semantic standards.

Despite increasing adoption of the FAIR data principles—to make data Findable, Accessible, Interoperable, and Reusable—the neuromuscular disease field faces challenges due to multiple parallel efforts to harmonize data across registries and research initiatives. Ontology-based annotation captures explicit semantic relationships, enabling interoperability across independently harmonized datasets and supporting cross-cohort analysis, disease characterization, and downstream applications.

A collaborative effort was recently launched to bring together neuromuscular disease experts and ontology developers to create a Neuromuscular Disease (NMD) Ontology. This domain-focused ontology aims to align ongoing efforts, provide a shared semantic framework tailored to neuromuscular disorders, and support consistent data annotation across studies. The NMD ontology aims for interoperability with existing ontologies including Mondo, HPO, International classification of functional disability and health (ICF), National Cancer Institute Thesaurus (NCIT), SNOMED, and ICD10/11. By harmonizing terminology and data models at the domain level, this initiative seeks to reduce duplication, improve interoperability, and accelerate the generation of actionable insights to advance neuromuscular disease research and therapeutic development.