Building the Intelligent Future of Rare Disease
We believe every rare disease deserves a voice. That's why we're combining the speed of AI with the wisdom of the community to create the world's most accurate, accessible disease registry.
Why This Matters
For patients and families facing a rare disease diagnosis, finding reliable information is exhausting. Generic health sites offer surface-level overviews. Medical journals are locked behind paywalls and written for specialists. The information that exists is scattered across dozens of sources, often contradictory, frequently outdated.
Meanwhile, the people who know the most about living with these conditions - patients, caregivers, and the dedicated PAGs who support them - have no central place to share their hard-won knowledge.
We're changing that.
What We Stand For
Four principles guide everything we build.
Free Knowledge for All
Every disease report on RareConnect.io is free to read, share, and print. No paywalls. No subscriptions. Information about your health should never be locked behind a credit card.
Radical Transparency
See exactly how every piece of information was created. Every edit tracked. Every source cited. Every contributor credited. Wikipedia-style version history for every disease page.
AI-Powered, Human-Verified
We use cutting-edge AI to generate patient-friendly disease reports from medical literature. But AI is just the starting point - community experts review, refine, and fact-check everything.
Community-Built Accuracy
The best disease information comes from those who live it. Patients, caregivers, and medical experts contribute their knowledge, creating reports that are both scientifically sound and deeply informed by real experience.
How It Works
A unique approach that combines the efficiency of AI with the wisdom of human experience.
AI Generates the Foundation
Our AI synthesizes information from medical databases, research papers, and clinical resources to create comprehensive, patient-friendly disease reports covering symptoms, causes, diagnosis, treatment, and more.
Experts Verify & Enhance
Healthcare professionals, researchers, and verified experts review the AI-generated content, correcting inaccuracies and adding clinical depth. Their credentials are verified before they can edit.
Community Refines & Expands
Patients and caregivers add the details that only lived experience can provide - practical tips, emotional support resources, and real-world insights that complement the medical facts.
Built from Lived Experience. Scaled by Technology.
RareConnect.io was founded by Sean Roberts, a technologist and patient advocate who has spent his career building digital infrastructure for the rare disease ecosystem.
Sean's drive is deeply personal. Growing up with two adopted brothers living with undiagnosed rare conditions, he witnessed the isolation and systemic gaps that families face daily. That lived experience led him to the National Organization for Rare Disorders (NORD), where he served as Web Project Lead, building critical tools for patients and researchers worldwide.
But he saw that the ecosystem needed to evolve faster.
RareConnect.io was born to close the gap between patient needs and technological capability. By combining the speed of modern AI with the empathy of human stewardship, Sean is building the operating system the rare community deserves - one that moves fast, breaks down silos, and ensures no patient is left searching in the dark.
Sean Roberts
Founder, RareConnect.io
"Our mission is to ensure no patient ever feels alone in the unknown. By partnering the wisdom of the rare community with the speed of AI, we are closing the gaps that have existed for too long. Compassion guides our work, but action drives it forward."
Built on Trusted Foundations
Our disease data is powered by the Monarch Disease Ontology (MONDO), the world's most comprehensive rare disease classification system. Gene associations come from the Monarch Initiative Knowledge Graph, ensuring high-quality, scientifically validated relationships.
Patient-friendly content is generated using AI and reviewed by our community and moderators to ensure accuracy and accessibility.
Join the Movement
Whether you're a patient seeking information, a caregiver wanting to contribute, or a professional looking to help - there's a place for you at RareConnect.
Want to partner with us? Learn about partnership opportunities →