top of page

Our Research

Together with our research team, we have identified the initial research that is needed to lead to finding a cure for our children. See below for an outline of the plan.

The researchers aim to understand how specific variants of the PPP3CA gene affect the function of calcineurin and contribute to disease.

In particular they plan to:

  1. Further understand and characterize the structure and stability of calcineurin in PPP3CA variants. This will allow us to better understand how these mutations affect calcineurin's function.

  2. Introduce the PPP3CA variants into yeast cells to study their stability and function in a model living organism.

  3. Study how these variants of the PPP3CA gene affect the function of nerve cells in the hippocampus.

Guided by the results of the above initial studies, future studies will extend to characterizing the altered signaling function of PPP3CA variants in additional preclinical models including nerve cells made from patient-derived stem cells (iPSCs, induced pluripotent stem cells). This will allow us to find targeted treatments such as ASOs and gene editing.

Learn more about our researchers here.

Path to a Cure.png
bottom of page