Thousands of children receive a genetic test that says negative. But negative doesn't mean there's no answer, it means the pipeline didn't find one yet. Genes get discovered. Classifications change. Phenotypes evolve. The science moves forward. The patient doesn't. And no one calls the family.

The average diagnostic odyssey lasts 7.4 years. 30% of unsolved cases are solvable today, with data that already exists. That's not a scientific failure. That's a system failure.

Trent was born in 2009. Within days , inconsolable crying, feeding failure, a brain scan showing partial agenesis of the corpus callosum. Over four years he saw eight specialists, had multiple surgeries, developed seizures, and was prescribed drug after drug that wasn't treating the cause because no one knew the cause. His neurologist's explanation for six-day crying spells was simply: "that's just Trent."

In January 2013, a geneticist identified a mutation in the FOXG1 gene. A gene that wasn't on the panel when Trent was first tested. The answer was always in his biology. The system just never looked for it.

FOXG1 syndrome disrupts early brain formation, producing profound developmental delay, absent speech, seizures, and movement abnormalities from infancy. There are roughly 1,500 known patients worldwide. Thousands more are almost certainly undiagnosed right now, waiting for a system that proactively looks for answers instead of waiting to be asked.

Trent waited four years. Our tool makes sure the next child doesn't have to.

reviGen takes everything a clinician already has and asks the question no one is asking systematically: given everything we know today, should this case be reanalyzed, and why?

It works in five steps:

  1. A doctor inputs a clinical note, prior VUS genes, test type, date, and patient history
  2. Claude API extracts HPO terms directly from clinical language
  3. A 7-signal scoring engine weighs OMIM surveillance, ClinVar reclassification, phenotypic drift, inheritance flags, analysis gaps, and AlphaMissense pathogenicity
  4. A ranked differential and reanalysis recommendation is generated
  5. The case is routed to the right specialists: clinical, bioinformatics, molecular genetics

Two portals. Patients track symptoms and view their diagnosis report. Physicians run reanalysis, send referrals, and issue diagnoses. The system supports the doctor. It never replaces them.

reviGen currently reflects the populations most represented in genomic research, and we know that's not good enough. Our next steps are deliberate: parental genome integration, family-linked databases, globally diverse training data, and real-time multilingual support. So the child in rural Brazil has the same shot as the child at Boston Children's.

The diagnostic gap isn't just scientific. It's geographic, linguistic, and systemic. reviGen doesn't replace the first genetic test. It makes sure a negative result is never the last word.

Built With

  • alphamissense
  • claude
  • clinvar
  • fastapi
  • jaccard
  • mygene2
  • omim
  • radboud
  • resnik
  • uvicorn
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