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) | |
| Â | Disease management protocol in use |