RESEARCH INDICATES THAT PACS1 SYNDROME IS CAUSED BY A TOXIC PROTEIN PRODUCED BY THE MUTATED PACS1 GENE.
The research is focused on approaches to remove the toxic protein. This will restore cell function and alleviate the symptom of PACS1 Syndrome
SMALL MOLECULE THERAPY
Our research team has identified an abnormal phenotype in PACS1 patient cells that is readily observed under a microscope. This can be used in high throughput drug screens to assess the effect of a wide variety of compounds on restoring the morphology and function of the patient cells. If FDA-approved compounds are found, via these screens, to restore function, there is a quick turn around to get the compounds from the clinic to PACS1 patients.
The foundation is working with Ionis pharmaceuticals to develop an anti-sense therapy that would work by binding to the mutant RNA, thereby stopping the production of the toxic protein which causes the symptoms of PACS1 Syndrome. Ionis has recently had success with this technique with SMA and Huntington's disease