Exploring Research and Drug Development in the Rare Disease Community

Global Genes is a rare disease advocacy organization that supports patients, caregivers, researchers, and advocates around the world through education, data platforms, patient services, research resources, and global community-building. Its work is focused on improving the lives of the estimated 400 million people worldwide affected by rare diseases and strengthening the communities working every day to advance research and treatments.

 

From September 9–11, 2026, I had the pleasure of attending the Global Genes RARE Drug Development Symposium in Boston, Massachusetts. It was a fascinating 2½ days that brought together rare disease patients and families, patient advocacy organizations large and small, pharmaceutical and biotech companies, researchers, venture capitalists, clinicians, and government leaders. Through main sessions, focused breakouts, panels, group presentations, and hands-on workshops, we explored nearly every aspect of research and drug development in the rare disease community.

 

One of the highlights for me was the focus on data—and specifically, how better use of data can help accelerate rare disease research.

 

How can we collect meaningful data quickly while minimizing the burden on patients and families? Can we connect years of research data with information contained in patients’ medical records? (Excitingly, the answer is getting very close to “yes.”) How do we build datasets that can inform better clinical trial design and help attract the investment needed to fund those trials? How do we create the infrastructure necessary to move promising therapies through development more quickly? And how can patient organizations, researchers, industry, and investors work together more effectively to bring clinical trials to patients faster and, ultimately, achieve better outcomes?

 

And, of course, there is the question that underlies all of it: How do we pay for it?

 

The program featured an impressive range of presenters, including CEOs, researchers, and medical officers from rare disease organizations and biotech companies; founders of health data companies; clinicians from major hospitals and academic institutions; venture capital leaders; and representatives from the FDA. Amy Comstock Rick, JD, from the FDA’s Rare Disease Innovation Hub—who also joined us at the PWSA | USA DC Fly-In in May 2026—was among the presenters.

 

Throughout the symposium, one message came through loud and clear: no single part of the rare disease ecosystem can do this alone. Patients and families, advocacy organizations, clinicians, researchers, biotech and pharmaceutical companies, government, data experts, and investors all have a role to play. When those groups work together—and when the patient voice is included from the very beginning—we have a much greater opportunity to speed research and bring meaningful therapies to the people who need them.

 

For the Prader-Willi syndrome community, these conversations are especially relevant. We have seen firsthand both the extraordinary progress that can happen in PWS drug development and the challenges that remain. Our community has participated in natural history studies, clinical trials, patient-focused drug development initiatives, regulatory engagement, and ongoing efforts to better define the outcomes that matter most to individuals with PWS and their families.

 

As our PWS research landscape continues to evolve, the questions being asked across the broader rare disease community are the same ones we need to keep asking ourselves: Are we collecting the right data? Are we reducing the burden on families who participate in research? Are we designing trials around outcomes that are truly meaningful to people living with PWS? Are we effectively sharing what we have already learned? And are we creating an environment that encourages researchers and companies to continue investing in PWS?

 

For PWSA | USA, being part of these broader rare disease conversations gives us the opportunity not only to learn from other communities, but also to bring the experiences, lessons, and voice of the PWS community into the room. Every connection we make, every lesson we bring home, and every opportunity we create for collaboration helps strengthen our work toward the ultimate goal: more research, better treatments, and better lives for every person living with Prader-Willi syndrome and their family.