From clinical notes to a rare disease diagnosis.
Rare diseases take an average of five years to diagnose. RareSim reads the clinical notes that already exist, matches what it finds against more than 6,000 known conditions, and keeps clinicians in the loop.
Extract, match, improve
Extract
We read clinical notes and pull out the patient’s phenotypes — the observable signs and symptoms — keeping track of context like negation, family history and timing.
Match
We compare that phenotype profile against known rare diseases and against patients who already have a diagnosis, and return a ranked list of candidates.
Improve
Clinicians correct what we get wrong. That feedback flows back into both earlier steps, so the system gets sharper the more it is used.
Our first papers are in preparation and will be listed here with DOIs and author copies.
Updates
RareSim launches its project websiteMilestone
Who is behind RareSim
A collaboration between the Dynamic and Distributed Information Systems Group, two Zurich university hospitals and the ITINERARE research programme.
Professor
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Post-Doc
PhD Student