{"id":"W4410396192","doi":"10.1056/nejmoa2504747","title":"Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease","year":2025,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":278,"is_retracted":false,"has_abstract":true,"ca_institutions":"Acuitas Therapeutics (Canada)","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; NIH Office of the Director; National Cancer Institute; National Institutes of Health; Children's Hospital of Philadelphia","keywords":"Genome editing; In vivo; Gene; Rare disease; Disease; Medicine; Genetics; Biology; Computational biology; Bioinformatics; Pathology; CRISPR","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003693249,0.0003434897,0.0002903947,0.0001422994,0.0001496187,0.0003397972,0.0002750401,0.0006469751,0.002313285],"category_scores_gemma":[0.000380278,0.0000980921,0.0002412967,0.00009382398,0.0002597643,0.0001680376,0.0002965214,0.0007904341,0.0005563044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001626868,"about_ca_system_score_gemma":0.0001357821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000155685,"about_ca_topic_score_gemma":0.0003546615,"domain_scores_codex":[0.9998418,0.00004546119,0.000009260327,0.00003698938,0.00004460784,0.00002180162],"domain_scores_gemma":[0.9998789,0.00004139324,0.00003145481,0.00001985259,0.000007603285,0.00002080561],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0003235621,0.000161925,0.0006875849,0.0001404878,0.00004712596,0.002919461,0.00009011616,0.0006397901,0.9439052,0.002310338,0.003436345,0.04533795],"study_design_scores_gemma":[0.0001507611,0.001790648,0.002252663,0.00004248651,0.0000962177,0.02885018,0.00004915627,0.003740401,0.8948725,0.001133894,0.06699221,0.00002889853],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8150044,0.01495906,0.1322635,0.004189667,0.001516166,0.000426041,0.001153489,0.002806102,0.0276816],"genre_scores_gemma":[0.9638129,0.004274972,0.02505087,0.00056946,0.0001026548,0.00008105133,0.0004472237,0.0001326733,0.005528301],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002313285,"threshold_uncertainty_score":0.007738709,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005243302509100938,"score_gpt":0.267842131142233,"score_spread":0.2625988286331321,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}