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Table 1 Translational toolbox: Conditions and resources that will enable effective orphan disease translational research

From: A generalizable pre-clinical research approach for orphan disease therapy

Critical Information Known Gene
Known Inheritance (dominant or recessive)
Known Mechanism (LOF or GOF)
Helpful Information Existence of a presymptomatic window or likeliness of clinical reversibility
Dysregulated pathway known
Diagnostic assay associated with primary defect available
Purified protein available
Protein crystal structure known
Antibody directed against protein available
Previous screen related to disease gene exists (screen for pharmacologic modulation, ASO screening, etc)
Gene under control of transcription factors responsive to drugs
Scorable cell culture phenotype exists
Animal or other model available
Scorable biomarker reflecting disease state exists (metabolomic, transcriptomic marker, etc)
  Disease management protocol in use