Dear Global Genes Community,
What a difference a few weeks can make when a community comes together with a shared vision for the future of rare disease research.
This September, the Global Genes community reached several exciting milestones.
- Nearly 400 leaders came together to learn and connect at our RARE Drug Development Symposium.
- We announced a partnership with Citizen Health that gives RARE-X the technology to exponentially increase its impact.
- Global Genes joined a federally funded consortium working to build what is designed to become the world’s largest data resource for rare disease AI.
Whether you joined us at RDDS, participated in a Global Genes program, contributed to patient-powered research, or helped advance advocacy in your own community, you are part of the progress happening across the rare disease landscape. Thank you for bringing your experience, expertise, and commitment to this work.
When patients lead, breakthroughs accelerate. This quarter showed just how much is possible when patient advocates are equipped to help shape the future of rare disease research and drug development.
Patient Leaders at the Center of Drug Development
In September, 272 patient advocates, scientists, regulators, and industry leaders joined us at Harvard University for the tenth annual RARE Drug Development Symposium (RDDS), held in partnership with Boston Children’s Hospital and the Termeer Institute. Another 126 participants joined online.
From a first-ever Market Access panel to a fireside chat with Amy Comstock Rick, Director of the FDA’s Rare Disease Innovation Hub, the symposium explored how patient perspectives can influence every stage of drug development. RDDS also creates opportunities for emerging patient leaders to build relationships and put their training into action.
Sarah Medley, who leads the MSL3 Foundation, an ultra-rare patient organization, attended RDDS after completing our Research Acceleration Program:
“I have probably been to 6 or 7 patient advocacy or rare disease conferences since my son was diagnosed in 2018. But after going through the Research Acceleration program with Global Genes this past year, I now feel, for the first time, like I truly belong.”
– Sarah Medley, MSL3 Foundation
A New Chapter for RARE-X
On September 8th, we announced a strategic partnership with Citizen Health to power RARE-X, our patient-powered research program, which now includes more than 10,000 participants and 135 patient advocacy communities.
The partnership will make research participation easier by allowing families to link their RARE-X survey data with electronic health records. Researchers can gain a more complete understanding of rare diseases by connecting families’ lived experiences with clinical information.
Global Genes will continue to set the research agenda and govern the data, while participants remain in control of their information and can opt in or out at any time. This is an important step toward growing patient-powered research and making community contributions more valuable to researchers working to develop treatments.
Bringing the Patient Voice to Rare Disease AI
On September 30, we announced that Global Genes is part of a consortium led by the UNC School of Medicine and Emory University. The consortium received up to $35 million from ARPA-H through its Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program.
AI has the potential to transform rare disease research, but its impact depends on the quality and diversity of the data behind it. Through our advocacy expertise, patient engagement, and RARE-X program, which includes data from almost 100 diseases, Global Genes will help ensure patient experiences and perspectives inform this work from the beginning.
Patient leadership isn’t just about having a seat at the table. It’s about helping shape the research, data, and decisions that move treatments closer to reality.
What Comes Next: Championing Patient Leadership
These milestones are part of a larger effort to equip patient advocates to become powerful leaders in rare disease research and drug development. Our next priorities include:
- Expanding leadership development: Our new Leadership Lab series is bringing in-depth training to patient advocates in two regions this fall.
- Growing patient-powered research: RARE-X participants will begin transitioning to the new Citizen Health platform, with support to help families navigate the process and maintain control over their contributions.
- Strengthening advocacy partnerships: We continue to connect patient organizations, researchers, and industry partners so patient perspectives help inform the decisions that move research toward treatments.
As we approach the end of the year, we’re looking ahead to what we can accomplish together. Because when patient advocates have the training, resources, and connections to lead, they become powerful catalysts for research progress and the development of treatments their communities urgently need.
As Global Genes heads into the year-end giving season, we invite you to help Champion the Power of Patient Leadership alongside us. Your support helps train the next generation of patient research leaders, strengthen patient organizations, and build the partnerships that bring patient priorities into the research and drug development process.
Thank you for being part of the Global Genes community and for everything you contribute to this work. I’m thrilled to see the impact we’re creating, together.
With gratitude,
Charlene Son Rigby
CEO, Global Genes
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