{"id":"W7116944718","doi":"10.1177/26330040251404519","title":"From care to cure: a patient engagement framework for rare disease and orphan drug research","year":2025,"lang":"en","type":"article","venue":"Therapeutic Advances in Rare Disease","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Carleton University","funders":"","keywords":"Orphan drug; Rare disease; Patient care; Disease; Health care; Healthcare system; Patient participation","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001350219,0.0002365825,0.0001881372,0.0001272398,0.0002434116,0.00006289865,0.0003067099,0.00006451651,0.00002460043],"category_scores_gemma":[0.0002391001,0.0002220534,0.0001070736,0.0002107544,0.0001119002,0.00001186776,0.0003074633,0.0001471189,0.000003563443],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005753795,"about_ca_system_score_gemma":0.0002775313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001438809,"about_ca_topic_score_gemma":0.00003451346,"domain_scores_codex":[0.9982062,0.0001964426,0.0002407362,0.000723777,0.0002072479,0.0004255747],"domain_scores_gemma":[0.9986061,0.0001436556,0.00004440491,0.0006048121,0.0001802073,0.0004207919],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.03084245,0.002580541,0.07541568,0.002914823,0.0007823072,0.0004252998,0.01245781,0.004973117,0.006407498,0.02437329,0.007725984,0.8311012],"study_design_scores_gemma":[0.003077052,0.0004833096,0.02674945,0.001048934,0.0003080517,4.876732e-7,0.0174081,0.000235265,0.003619169,0.1732038,0.772669,0.001197351],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.795145,0.1942544,0.005413187,0.001323727,0.0003784526,0.001833033,0.001530641,0.00002263049,0.0000988871],"genre_scores_gemma":[0.9923766,0.002674052,0.001545907,0.0016608,0.0001869764,0.0008181256,0.0005857606,0.00003356845,0.0001182174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8299038,"threshold_uncertainty_score":0.9055074,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01848932324950434,"score_gpt":0.3645214604750581,"score_spread":0.3460321372255538,"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."}}