Seven Thousand Diseases. Most Have No Treatment

Approximately seven thousand rare diseases affect thirty million Americans and three hundred million people worldwide. Most of those diseases have no FDA-approved treatment. Pediatric-onset rare disease is the largest single source of premature non-traumatic death in children. The CureForge Rare Disease & Pediatric Therapeutic Acceleration Institute is the federation’s research engine for that work. Ten specialized AI systems collaborate across rare-disease triage drawing on undiagnoseddisease network workflows, genotype-to-phenotype mapping with standards-compliant variant classification, drug repurposing for rare-disease indications, n-of-few clinical trial design under regulator-accommodation frameworks for very small populations, FDA Rare Pediatric Disease Priority Review Voucher strategy, Orphan Drug pathway navigation, pediatric trial design under the relevant pediatric research equity statutes, partnership coordination with patient registry organizations, compassionate use, and newborn screening expansion.

Value proposition:

• Seven thousand rare diseases, one accelerated research engine
• N-of-few trial design for ultra-rare populations
• Coordinated Orphan Drug and Rare Pediatric Disease pathway navigation