A new reflection article published in FEBS Open Bio argues that patients and patient advocates belong at the bench, not just at the bedside. Laura MacNeill, CEO of the CMT Research Foundation, is among the co-authors, contributing her experience as a patient advocate.
Researchers often chase the “why and how” of a disease, while patients and caregivers are often more focused on function and quality of life day to day. That mismatch shows up in clinical trials too, because the outcomes chosen don’t always reflect what patients care most about.
The path this research follows matters to everyone. In the United States alone, the annual economic cost of about 300 rare diseases approaches 1 trillion dollars. Roughly 300 million people worldwide live with a rare disease.
The authors trace how patient advocacy groups have evolved into what they call Patient-Driven Research Organizations, building patient registries, establishing biobanks, funding seed-stage research, shaping clinical trial design, and serving as a trusted bridge between families and the research community. The CMT Research Foundation is highlighted as an example of a long-standing partnership of this kind.
The paper also includes a practical, step-by-step guide for organizing patient panels at conferences, covering recruitment, compensation, informed consent, and accessibility.
The paper highlights friction points as well, noting a communication gap researchers often feel but aren’t trained to address, the travel burden on geographically scattered rare disease families, and the tension between academic publishing incentives and the open data sharing that these partnerships depend on.
The paper concludes, “The question should not be ‘why are researchers not engaging with patients?’ but rather ‘how are researchers engaging with patients?’”
