AI-Assisted Rare Disease Diagnosis

The Challenge

Every year, millions of patients with rare diseases face a “diagnostic odyssey” - years of tests, misdiagnoses, and uncertainty. The average rare disease patient waits 4.8 years for an accurate diagnosis, visiting 7.3 different physicians.

Our Approach

We’re building AI models that can:

• Analyze medical images for subtle patterns humans might miss
• Cross-reference symptoms with genomic data
• Connect patients with similar undiagnosed conditions
• Provide doctors with ranked differential diagnoses

Impact So Far

• 300+ rare conditions in our database
• 45% reduction in time to diagnosis for pilot participants
• 12 medical centers participating
• 2,000+ patients helped

Get Involved

Whether you’re a data scientist, medical professional, or patient advocate, there’s a role for you in this project. Together, we’re shortening the diagnostic odyssey.