Compositions for flcn gene modulation and methods thereof

Abstract

Compositions, systems, kits, and methods are described herein for the modulation, and in particular the reduction or inhibition, of expression of the FLCN gene or the activity of FLCN protein in a cell, animal, or human subject. Compositions, systems, and methods disclosed herein can be used to prevent, ameliorate, or treat diseases, particularly neuromuscular or neurodegenerative diseases, retinal degeneration diseases, or other TDP-43 proteinopathies. Methods are described for the modulation, and in particular the reduction or inhibition of FLCN expression or activity, comprising the use of a modulator to regulate FLCN expression or activity. Methods are also described for the development, synthesis, and production of modulators, and for therapeutic treatment of TDP-43 proteinopathies such as ALS and other related disorders. Furthermore, methods for diagnostics and testing comprising detecting FLCN associated variants, or FLCN expression or activity levels, as well as compositions comprising kits for diagnostics and testing, are described herein.

Dependencies are inferred from the claim text.