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Short Abstract

Can rare disease families be scientists? In our citizen science project with the CDG community, patients and caregivers co-designed research priorities, studies, and clinical tools—proving that lived experience can drive scientific and policy impact.

Abstract

This 3-minute pitch shares how the Congenital Disorders of Glycosylation (CDG) community transformed from research subjects into research partners through citizen science. In a field where patient voices are often excluded due to complexity and rarity, our initiative—led by CDG and Allies—empowered patients and caregivers to co-create every step of the research process.

Together, we prioritized symptoms, co-designed survey tools, co-led data interpretation, and influenced clinical trial planning. Caregivers identified gaps overlooked by traditional research, such as multisystem symptom clustering and the emotional burden of diagnostic uncertainty. Their insights reshaped protocols to be more meaningful and feasible in real-world settings.

Our pitch will spotlight how this co-creation model fostered trust, accelerated relevance, and sparked regulatory interest—proving that involving rare disease communities is not just ethical, but essential for impactful innovation.

By breaking disciplinary, linguistic, and geographic barriers, we created an inclusive ecosystem where lived expertise complemented clinical and scientific knowledge. This model offers transferable lessons for other underserved conditions and shows that, with the right tools and mindset, even the rarest voices can lead research that matters.

Vote for our pitch if you believe science should belong to everyone.