DISEASE GENE IDENTIFIED FOR DISORDER WITH PRESYMPTOMATIC WINDOW

1. SCREEN FOR: DOWNREGULATING SMALL MOLECULES * DOWNREGULATING ASOS ** GAIN OF FUNCTION PROTEIN DESTABILIZERS/FUNCTIONAL INHIBITORS** PATHOGENIC PATHWAY INHIBITORS LOSS OF FUNCTION CONFIRM IN DISEASE RELATED CELLULAR AND ANIMAL MODELS SPLICING MUTATION SPLICE MODULATING ASOS ** EXON SKIPPING ASOS** PREMATURE STOP CODON READ THROUGH INDUCING DRUGS** DISEASE GENE IDENTIFIED FOR DISORDER WITH PRESYMPTOMATIC WINDOW PHARMACOGICALLY RESPONSIVE TRANSCRIPTION FACTOR BINDING SITE** SIGNIFICANT RESIDUAL FUNCTION/ HAPLOINSUFFICIENCY/ PRESENCE OF RESCUING PARALOG UPREGULATING SMALL MOLECULES* STABILIZING/FUNCTIONALLY ENHANCING SMALL MOLECULE CHAPERONES** MAY ALSO EMPLOY: SUBSTRATE-REDUCTION THERAPY PATHOGENIC PATHWAY KNOWN COMPENSATE FOR ABSENCE OF ESSENTIAL PRODUCT ENZYME REPLACEMENT THERAPY OTHER GENE THERAPY * IN SILICO SCREEN POSSIBLE **COMPUTER BASED DRUG IDENTIFICATION/DESIGN POSSIBLE