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Short Abstract

This presentation explores how patients with rare diseases, as co-creators, are transforming research innovation through participatory research, driving AI-based tools, data collection, and transnational collaboration to bridge diagnostic gaps and foster equitable health solutions.

Abstract

Rare disease resesrch remains a major public health challenge, with over 40% of people living with rare diseases remains undiagnosed and delays often exceeding five years. This presentation highlights how participatory research and citizen science can transform this landscape by positioning patients as co-creators rather than passive subjects.

Drawing from European and national initiative —we illustrate how patients and their family members contribute actively to research innovation. Their roles include establishing and managing disease registries, generating phenotypic and genomic data, identifying undiagnosed cohorts, co-financing studies, and engaging in AI training processes (e.g., facial recognition, variant prioritization).

We explore the impact of these patient-led efforts across borders—disciplinary, national, and institutional—and how they challenge traditional boundaries in biomedical research. Our contribution reflects on the epistemic and ethical implications of such co-creative approaches and argues for formal recognition of patients as knowledge partners in diagnostic ecosystems.

By showcasing participatory infrastructures that integrate patients and their family members at all stages—from data governance to tool usability—we propose a model for more inclusive, efficient, and context-sensitive diagnostic research. We also address the challenges encountered, including data sovereignty, algorithmic bias, and power asymmetries, offering strategies for mutual learning and sustainability in high-stakes, cross-border health innovation.