As a basic researcher, I’m primarily focused on molecules and mechanisms and generally, my engagement with patient populations has been limited. However, one encounter convinced me of the need for basic researchers to learn how to engage with these populations, when the mother of a Lowe Syndrome patient reached out to us to better understand recent advances in our field (read more here). This exchange revealed to me how deeply patient communities connect with scientific literature, yet I’ve remained unsure how to pursue this type of engagement. 

To learn more, I spoke with two scientists with tremendous experience in this area: Marina Holz is Professor of Cell Biology and Anatomy at the New York Medical College and has served on numerous scientific advisory boards, including as chair of the scientific advisory board of the LAM Foundation, which focuses on the rare lung disease lymphangioleiomyomatosis. Becky Burdine, a Professor of Molecular Biology at Princeton University, frequently engages with patients with RASopathies, and brings a personal perspective as a parent to a child with Angelman Syndrome. In this context, she has served on the Angelman Syndrome Foundation (ASF) scientific advisory committee, served as Chief Scientific Officer for the Pitt-Hopkins Research Foundation and for the Foundation for Angelman Syndrome Therapeutics, and she is currently on the Board of Directors and the Chair of the Science Advisory Committee for the ASF. 

Benefits to Patients 
Despite being the greatest stakeholder in the basic science of their disease, patients typically have a limited voice in the direction of the work. When Marina led a survey of patient needs and research priorities, over 20% of the known population of patients responded, with some directly communicating how meaningful it was to be able to contribute in this way.  Patients and families may also feel frustrated at the lack of access and insight into the results of research that is so important to their lives. When Becky first learned of her daughter’s diagnosis, she got a very different story from researchers who saw a clear path to clinical trials, and a foundation that was unaware of the status of the field. Dialog between patients and researchers could solve these issues, allowing patients the opportunity to communicate their experience, needs, and desires, and giving researchers an opportunity to explain their work and the current state of the field. These conversations can have an impact that extends beyond the disease itself: By drawing back the curtain on how science works, we can clarify the impact of basic research on society, a need that feels more pressing every year.

Benefits to Researchers
As a basic scientist, I typically find myself absorbed in details of mechanism or experimental design or data, and lose sight of how my work might matter to someone. At a minimum, understanding the human context of the basic science that we do can be incredibly humbling and motivating. One student in Becky’s lab returned from a conference featuring patient presentations and discussions with a transformed perspective—they hadn’t realized how important their work truly was and felt a renewed commitment to their research. 

Patient engagement offers tangible research benefits too. Since patients experience disease in many ways, they provide unique insights into rare or overlooked disease features. As Angelman Syndrome patients age, for instance, some develop sporadic Parkinsonian-like tremors—a symptom not included in the standard profile considered by researchers. Through their foundation, parents advocated for the recognition of this symptom and have funded a project by a researcher specializing in movement disorders. This investigation might never have emerged without direct patient-researcher dialog.

How to Engage 
Your approach depends on your career stage and research focus—though direct disease work isn’t required for involvement. A great way to get started is to contact a foundation for a disease and ask how you might be able to get involved. This may be to serve on a scientific advisory board, to help review foundation grant proposals, or to help organize meetings. Marina’s journey started with a pilot grant to the LAM Foundation, which led to reviewing grants and ultimately serving on their scientific advisory board.  If your work directly touches on a disease, you could elect to attend meetings that include dedicated opportunities to hear from or speak with patients. As an ambassador for the American Cancer Society, Marina brought patient-survivors interested in fundraising or research into the lab, demonstrating first-hand how progress is made. 

Effective Communication
Remember first that researcher and patient priorities aren’t necessarily identical – typically researchers care more about disease mechanisms, while patients may be focused on outcomes that will improve quality of life, with questions like: What is causing my disease? What is possible with respect to treatments? Are we funding the right research? Do people care about what patients are dealing with? To effectively address these concerns, Becky recommends approaching conversations as a scientist first and foremost. Your role isn’t to crush or artificially provide hope, but rather to explain your work and your expert perspective on the field accurately and accessibly. She experienced this contrast firsthand: upon her daughter’s diagnosis, one scientist incorrectly extrapolated from basic findings to suggest a lack of hope, while another researcher highlighted specific developments establishing a path to clinical application. The latter inspired hope firmly anchored in data and field trajectory and ultimately proved correct.

Why It Matters
Researcher-patient engagement creates a powerful cycle of impact: scientists gain motivation, direction, and unique insights, patients gain understanding and voice, and science advances with greater purpose. Whether through formal advisory roles, conference interactions, or lab visits, these connections remind us why we became scientists in the first place—to make discoveries that matter.