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 certain phenotypes in PACS1 patient stem-cell lines. This can be used in drug screens to assess the effect of a wide variety of compounds on restoring the function of the patient stem 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.