Cutting through the diagnostic odyssey
300 million people worldwide have rare diseases. The average patient waits 5–7 years for a diagnosis. 95% have no FDA-approved treatment. Skippy Rare fuses phenotype matching, variant evidence, natural history, and trial intelligence into one platform — built to compress that timeline.
What Rare does
Phenotype-to-diagnosis matching
HPO-coded phenotypes matched against Orphanet, OMIM, and DisGeNET gene-disease associations. Returns ranked candidate diagnoses with evidence support and source citation.
Variant evidence synthesis
Pathogenic and likely-pathogenic variant evidence from ClinVar and CIViC, filtered to the patient's phenotypic context. Rare variant frequency grounded in gnomAD population data.
Natural history synthesis
What is known about disease progression, survival, and treatment outcomes — synthesized across all available clinical literature and patient registry data with full source lineage.
Clinical trial matching
Eligible trials from ClinicalTrials.gov matched by phenotype, variant, and eligibility criteria. 578K+ registered studies indexed — including expanded access and compassionate use programs.
“For 95% of rare diseases, there is no FDA-approved therapy. Evidence is scattered across case reports, registry studies, and preprints — no single source is complete.”
Skippy Rare cross-validates across Orphanet, ClinVar, CIViC, DisGeNET, and the clinical literature — fusing fragmented evidence into a coherent, calibrated picture with full source lineage. Not synthesis from one database. All of them.
Centers, advocates, and R&D teams
Built for FDA Orphan Drug pathways
Orphanet and HPO classification documented per finding — traceable evidence for FDA Orphan Drug Designation filings and Breakthrough Therapy applications. Natural history synthesis provides the population evidence base regulators require.
ACMG/AMP variant classification is fully traceable, supporting companion diagnostic and CDx-adjacent evidence generation for rare genetic indications.
HIPAA-ready with BAA available. Every query generates an immutable audit record suitable for regulatory and IRB documentation.
See Rare in your program
We work with rare disease centers, patient advocacy organizations, and pharma R&D teams. Let's talk about your rare disease evidence problem.