The Brainteaser Ontology: a Progression and Monitoring of Brain-related Diseases

Tracking #: 3454-4668

This paper is currently under review
Guglielmo Faggioli
Stefano Marchesin
Laura Menotti
Adriano Chiò
Arianna Dagliati
Mamede de Carvalho
Marta Gromicho
Umberto Manera
Eleonora Tavazzi
Giorgio Maria Di Nunzio1
Gianmaria Silvello
Nicola Ferro

Responsible editor: 
GQ Zhang

Submission type: 
Ontology Description
Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) are neurological diseases that severely impact patients’ quality of life, characterized by rapid deterioration and cyclic relapses. Accurately predicting disease progression is challenging but crucial for better supporting medical practitioners and improving patient outcomes. To achieve this, clinical data of ALS and MS patients needs to be modeled in a machine-readable format using an ontology, which provides a standardized representation of the data. However, only a few studies have focused on modeling ALS and MS jointly from an ontological perspective. This work presents the BrainTeaser Ontology (BTO), a unique ontology that models the clinical events associated with ALS and MS in a comprehensive and modular manner. BTO is designed to capture various clinical cases, including disease onset, symptoms, diagnostic and therapeutic procedures, and relapses, using an event-based approach. Developed in collaboration with medical partners and domain experts, BTO offers a holistic view of ALS and MS, supporting the representation of retrospective and prospective data. Furthermore, BTO adheres to Open Science and FAIR (Findable, Accessible, Interoperable, and Reusable) principles, making it a reliable framework for developing predictive tools to aid in medical decision-making and patient care. Although BTO is specifically designed for ALS and MS, its modular and generalizable structure makes it easily extendable to other brain-related diseases, showcasing its potential for broader applicability in the field of neurology.
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