Topic: Artificial Intelligence Applications in Rare Disease Research and Care

Artificial intelligence (AI) is poised to transform the rare disease landscape by addressing long-standing challenges throughout the patient journey - from the onset of initial symptoms to lifelong management and the transition to adult care. This Special Issue, "Artificial Intelligence Applications in Rare Disease Research and Care," focuses on how AI-driven methods can improve outcomes at every critical stage, including complex clinical presentations, diagnosis, treatment and care, patient education, and transition across life stages. Rare diseases are often characterized by heterogeneous phenotypes, delayed diagnoses, fragmented care pathways, and limited access to expert knowledge. AI approaches, such as machine learning, natural language processing, multimodal foundation models, knowledge graphs, and predictive analytics, offer powerful tools for rare disease research. They can detect subtle clinical patterns, integrate genomic and phenotypic data, accelerate diagnostic reasoning, identify therapeutic opportunities, and enable data-driven care coordination. By leveraging diverse data sources such as electronic health records, medical imaging, genomic sequencing, wearable devices, and patient-reported outcomes, AI has the potential to shorten diagnostic odysseys, stratify patients for precision therapies, and identify candidates for clinical trials.

This Special Issue emphasizes a multi-stakeholder perspective, recognizing that meaningful progress in rare diseases requires collaboration across the entire ecosystem. Contributions will reflect the views and experiences of clinicians, patients and patient advocacy groups, industry partners, and pharmaceutical companies. AI-enabled systems can facilitate access to specialist networks, peer support communities, financial and psychological support, and personalized education planning, while supporting smoother transitions to adult care. Intelligent decision-support tools may assist clinicians in selecting appropriate management strategies and predicting disease trajectories, while industry and contract research organization (CRO) stakeholders may leverage AI to optimize trial design, patient recruitment, and drug development pipelines. By integrating clinical insight, lived experience, and translational innovation, this Special Issue aims to highlight how responsible, interpretable, and ethically grounded AI can be embedded across the rare disease continuum. The ultimate goal is to enable earlier recognition, more precise interventions, and sustained, equitable support for patients and families throughout their lives.