{"data":{"id":"42bb45a9-9269-4480-be1b-65f7413383ad","title":"Using AI to help physicians diagnose rare genetic diseases affecting children","summary":"Researchers used OpenAI o3 Deep Research, an AI reasoning model, to re-analyze 376 previously unsolved rare genetic disease cases by connecting clinical data, genetic variants, and scientific literature into evidence-based explanations for human experts to review. After specialist evaluation and clinical confirmation, the AI-assisted workflow helped establish new diagnoses in 18 cases (4.8% additional diagnostic yield), with the model generating hypotheses rather than making medical decisions itself. This demonstrates how periodic AI-assisted reanalysis could help scale the process of solving rare disease cases as medical knowledge evolves.","solution":"N/A -- no mitigation discussed in source.","labels":["research"],"sourceUrl":"https://openai.com/index/diagnose-rare-childhood-diseases","publishedAt":"2026-06-18T08:00:00.000Z","cveId":null,"cweIds":null,"cvssScore":null,"cvssSeverity":null,"severity":"info","attackType":[],"issueType":"research","affectedPackages":null,"affectedVendors":["OpenAI"],"affectedVendorsRaw":["OpenAI","OpenAI o3 Deep Research"],"classifierModel":"claude-haiku-4-5-20251001","classifierPromptVersion":"v3","cvssVector":null,"attackVector":null,"attackComplexity":null,"privilegesRequired":null,"userInteraction":null,"exploitMaturity":null,"epssScore":null,"patchAvailable":null,"disclosureDate":"2026-06-18T08:00:00.000Z","capecIds":null,"crossRefCount":0,"attackSophistication":"moderate","impactType":null,"aiComponentTargeted":"inference","llmSpecific":true,"classifierConfidence":0.92,"researchCategory":"peer_reviewed","atlasIds":null}}