RARE DISEASE, REAL HOPE

Find the signal.
Help a real child.

An AI research workspace for ranking causal variants and surfacing drug-repurposing hypotheses from genomic and clinical evidence.

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∿Genomic dataChoose a filtered VCF or VCF.GZ excerptSELECT ✦Phenotype fileOptional HPO, JSON, CSV, or text fileOPTIONAL

Clinical phenotype notesPaste de-identified HPO terms, symptoms, inheritance context, and relevant history.

02Drug repurposing hypothesesLive model output for research review — never treatment recommendations

AI OUTPUT ONLY

Awaiting real hypotheses

This section is intentionally empty until OpenAI returns mechanism-linked research directions.

Direction titleMechanistic rationaleEvidence levelValidation required

Transparent by designEvery ranking preserves its phenotype match, inheritance logic, source trail, and uncertainty so researchers can challenge the model—not simply trust it.

Research use only. Results appear only after a live API analysis and require independent scientific and clinical validation. This tool does not diagnose disease or recommend medical care. Follow @RareKidDisease on X.