Latest news on our gene therapy

The CASK Coalition has funded groundbreaking research through the CURE CASK campaign, supporting Dr Kyle Fink's laboratory in developing human induced pluripotent stem-cell (iPSC) models to study CASK mutations. These cells are engineered with CASK mutations to compare their behaviour against healthy cells, with initial findings revealing significant differences in neuron health, morphology and growth patterns.

The project's primary focus is epigenetic rescue — enabling cells to produce their own CASK protein using CRISPR/dCas9 technology. Researchers have successfully identified specific tool and guide combinations that reactivate the silenced CASK gene on the inactive X chromosome, allowing cells to manufacture CASK protein.

Dr Fink: "If we are able to turn CASK on, then the dysfunction we see in those neurons could, in theory, be restored."

ACRNF USA is now fundraising for Phase 2, focusing on Professor Jill Silverman's translational research with mouse models. The Silverman lab employs innovative techniques including a unique EEG monitoring system paired with respiratory physiology to study sleep disorders commonly observed in CASK-deficient individuals.

Professor Silverman: "Gene therapy is no longer science fiction." The team aims to properly characterise a CASK mouse model by assessing brain function, sleep patterns, sensory function and motor capabilities — data essential for FDA approval of any therapeutic intervention.