Patients as Co-Investigators: The Evolution of Communicating About Rare Diseases

A generation ago, communications for rare diseases meant translating institutional science into messages and materials patients could understand. That model assumed a one-way flow: scientists knew the research, and patients learned from them.

Simply put, that is no longer the case.

Patients who have rare diseases now routinely operate as co-investigators, alongside family members, other caregivers, and involved communities. They raise capital for their own natural history studies,¹ establish patient-led registries,² and co-author peer-reviewed publications.³ FDA’s Patient-Focused Drug Development initiative has formalized patient input into regulatory decisions.⁴  Patients often arrive for studies at the NIH Clinical Center as well informed about their condition as many of the clinicians who care for them. 

These patients are not just advocates—they are experts in lived experience and in what “better outcomes” mean in practice, contributing meaningfully to what we study and the results that we consider significant.⁵

That shift informs what communicators must do for rare diseases. The task is no longer translation from scientist to patient. It is exchange between expert audiences bringing different forms of expertise to the conversation.

NIH has taken action in this direction. The National Center for Advancing Translational Sciences (NCATS) invests in programs like the Rare Diseases Clinical Research Network, funding more than 20 patient-informed academic consortia.⁶ NIH’s Genetic and Rare Diseases Information Center (GARD), supported by NCATS and the National Human Genome Research Institute, curates accessible information for thousands of rare conditions, including patient organizations as verified sources.⁷ Even the annual Rare Disease Day at NIH event has evolved from a lecture-style agenda toward programming that puts patient-led science alongside institutional research.⁸

What does all this mean for communicators? Messaging and engagement must consider patients as collaborators from the start, not simply an audience at the end of the process:

• Co-created content: Shape messaging and materials with patient advocacy organizations from the beginning rather than seeking review after the fact.
• Event formats: Elevate patient-led research alongside institutional findings rather than isolating it in a separate “patient perspective” track.
• Plain-language bidirectional exchange: Engage a knowledgeable audience; don’t rely on one-way outreach.
• Patient-advisor models: Embed patient advisors in communications planning, with the resources and timelines to make the role real.

The science of rare diseases is increasingly driven by the people who live it. Palladian Partners builds communications programs grounded in authentic partnership, recognizing that the intended audience should often be co-creators at the table to ensure messages and materials resonate and activate. 

How do you think rare diseases engagement should continue evolving to serve these communities effectively?

¹ https://www.chordomafoundation.org/research 
² https://research.sanfordhealth.org/rare-disease-registries/cords 
³ https://pmc.ncbi.nlm.nih.gov/articles/PMC8540870 
⁴ https://www.fda.gov/drugs/development-approval-process-drugs/cder-patient-focused-drug-development 
⁵ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214587
⁶ https://ncats.nih.gov/research/research-activities/rdcrn 
⁷ https://rarediseases.info.nih.gov 
⁸ https://ncats.nih.gov/news-events/events/rdd