The overall goal of this proposal is to gain insight into the disease mechanisms of PACS1 Syndrome - specifically pertaining to how modifier genes affect the clinical severity - by using iPSCs and cortical organoids as a disease model. We plan to use a combination of next generation sequencing with stem cell technology to identify genes that modify the clinical severity of PACS1 Syndrome. The results from this project will provide insights into the pathophysiology of PACS1 Syndrome and will elucidate targets for novel therapeutic strategies.
|Effective start/end date||5/15/19 → 7/25/21|
- PACS1 Syndrome Research Foundation (Agmt. 5/15/2019)