Skip to main content

About RareConnect

Making rare disease information accessible.

At RareConnect, we believe rare disease information needs to be accessible.

That's why we're building a transparent, community-powered platform that connects 26,000+ diseases, the genes that influence them, and the patient advocacy groups that support families worldwide.

Our mission is rooted in clarity, accessibility, and collaboration. We use modern biomedical ontologies, AI-assisted patient-friendly summaries, and a governance model that blends community contribution with rigorous review.

We value transparency in how information is created, equity across the rare disease spectrum, and the collective wisdom of patients, caregivers, clinicians, researchers, and advocates.

Together, we're creating a trusted knowledge network where rare diseases become easier to understand — and where every person and every patient organization has a place, a voice, and a connection.

Our Mission

To unite the rare disease community by providing trusted, accessible, and collaboratively curated information — connecting diseases, genes, and patient advocacy groups in a transparent, patient-centered knowledge network.

Our Values

These principles guide everything we build and every decision we make.

Transparency

Every edit, every version, every source is visible. Users can see how information evolves — and who contributed.

Accuracy

Built on biomedical ontologies, gene associations, and sourced content. Validated through AI moderation and human review.

Accessibility

Patient-first language, AI-assisted summaries, clear structure, and global reach. Information should be understandable, printable, and shareable.

Community Stewardship

Patients, caregivers, PAGs, clinicians, and researchers all have a voice. Knowledge grows through shared lived experience and expertise.

Equity

Every disease — common or ultra-rare — deserves representation, visibility, and support. The long tail of rare diseases matters.

Trust & Safety

Moderation, reputation systems, and admin governance ensure information remains safe, respectful, and reliable.

Collaboration

PAGs, institutions, and partners can build on this infrastructure instead of working in silos. Rare disease progress accelerates through shared tools and shared knowledge.

Built on Trusted Data

RareConnect is powered by the Monarch Disease Ontology (MONDO), the most comprehensive rare disease classification system. Gene associations are sourced from the Monarch Initiative Knowledge Graph, providing high-quality, causal gene-disease relationships.

Patient-friendly content is generated using AI and reviewed by our community and moderators to ensure accuracy and accessibility.

Join the Community

Whether you're a patient, caregiver, researcher, or patient advocacy group — there's a place for you at RareConnect.