{"id":"W2116801544","doi":"10.1111/j.1365-2796.2006.01666.x","title":"A journey of hope: lessons learned from studies on rare diseases and orphan drugs","year":2006,"lang":"en","type":"review","venue":"Journal of Internal Medicine","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":189,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"International Collaboration on Repair Discoveries; European Commission; Swedish Cancer Foundation","keywords":"Orphan drug; Medicine; Rare disease; Intensive care medicine; Disease; Incentive; Pharmaceutical industry; Alternative medicine; Drug development; Quality of life (healthcare); Drug; Pharmacology; Bioinformatics; Pathology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00653055,0.001219106,0.00338014,0.003884506,0.0006753983,0.003036549,0.001490355,0.003143499,0.002814181],"category_scores_gemma":[0.01078739,0.000407097,0.00107747,0.004453694,0.002802947,0.007205574,0.001819305,0.004842353,0.001098792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001893309,"about_ca_system_score_gemma":0.00348095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002116345,"about_ca_topic_score_gemma":0.004536457,"domain_scores_codex":[0.9984294,0.0006235822,0.0002444443,0.0001854223,0.0004334002,0.00008379032],"domain_scores_gemma":[0.984639,0.01233736,0.0005418347,0.0003233464,0.001688899,0.000469533],"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":[0.000139009,0.00007853425,0.0004628928,0.02269111,0.0002491081,0.001097057,0.0005445445,0.0003768354,0.0005636742,0.01317852,0.06715425,0.8934644],"study_design_scores_gemma":[0.00006443288,0.0001338327,0.001312191,0.01880369,0.0002007521,0.003201599,0.0008577322,0.0001177667,0.0002711393,0.01905601,0.955916,0.00006498618],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00005444367,0.9962004,0.00008911258,0.002894431,0.0004394802,0.000001467143,0.00000430142,0.000003558657,0.0003128517],"genre_scores_gemma":[0.0006793827,0.9966629,0.0002559843,0.001433862,0.0007947373,0.000003967686,0.00000666274,0.000002081354,0.0001603728],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00653055,"threshold_uncertainty_score":0.03453726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1550354168798279,"score_gpt":0.4605043948092687,"score_spread":0.3054689779294407,"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."}}