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RareSense — Rare Disease Diagnostic Tool

Harvard Rare Disease Hackathon 2025

AI-powered diagnostic tool using phenotype-driven disease matching with the Human Phenotype Ontology (HPO) to help healthcare professionals identify rare genetic disorders.

PythonStreamlitHPOBioinformaticsData Science

01 — Problem

What was hard about this

Rare diseases affect millions but are notoriously difficult to diagnose, with patients often waiting years for an accurate diagnosis due to the vast number of potential conditions.

02 — Solution

How it works

Built a Streamlit-based web application that allows healthcare professionals to input patient phenotypes and match them against known genetic disorders using the HPO database, providing ranked differential diagnoses.

03 — Impact

What shipped

  • Phenotype-driven matching across known genetic disorders
  • Built at Harvard Rare Disease Hackathon 2025
  • Interactive Streamlit UI for healthcare professionals
  • Leverages Human Phenotype Ontology for accurate matching
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