An oral, brain-penetrant splicing modulator targeting ELP1. Incorrect splicing of the Elongator complex protein 1 (ELP1) gene causes Familial Dysautonomia (FD), a neurodegenerative disease that results in uncoordinated movement, blindness through retinal degeneration, and risk of unexplained sudden death, among other symptoms. A single T-to-C [...]

The H3 Biomedicine RNA splicing modulator, H3B-8800 , targets the spliceosome SF3b complex containing either wild-type (WT) or mutant SF3B1. Splicesome inhibition can induce synthetic lethality since cancer cells bearing spliceosome mutations are more dependent on WT spliceosome function. The compound is derived from the natural product [...]

Mutated Huntingtin (HTT) protein is the cause of Huntington’s disease (HD). HTT-D3 is an oral, CNS-penetrant molecule with human HTT lowering activity in vivo used to illustrate the science around PTC Therapeutics’ Huntingtin’s disease program. PTC had filed patent applications for the HD program as early as November 2016 ( WO201700726 ). PTC [...]

The Storm Therapeutics/Cambridge METTL3 RNA methyltransferase inhibitor, STM-2457, is a first-in-class catalytic inhibitor of the METTL3 RNA modifying enzyme. DNA-methyltransferase and other epigenetic targets such as HDACs have been explored for their potential roles in cancer and other diseases, and this compound brings RNA modifying [...]