Research Projects
Collaborations & Funded Research Initiatives
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Together, the below initiatives represent a coordinated strategy to move from genetic discovery to functional understanding and, ultimately, to targeted treatments for PPP3CA. Check back for updates as we continue to expand our collaborations and fund new research initiatives!
Biochemical and Functional Characterization of PPP3CA Mouse Models
Dell'Acqua Lab, University of Colorado
February 2026 – December 2026
The PPP3CA Hope Foundation is funding in-depth characterization of PPP3CA mouse models (E282K, D234E, and D118N). This work includes biochemical analyses, electrophysiological studies using brain slice recordings to assess synaptic plasticity, and early behavioral assessments (locomotion, anxiety, and autism-related phenotypes).
These studies will generate essential preliminary data to support larger-scale funding applications and therapeutic exploration. This project is conducted in collaboration with the Foundation's Board of Directors, Scientific Advisory Board, and the Jackson Laboratory Rare Disease Translational Center.
Molecular and Functional Analysis of PPP3CA Variants
Peti Lab, University of Connecticut
September 2025 – July 2026
This funded project defines the molecular, structural, and functional consequences of key PPP3CA variants (E282K, H92R, R254G, D234E, and D118N). By determining how these mutations alter calcineurin activity, this work lays the foundation for targeted therapeutic development.
Development of E282K Mouse Model
Dell'Acqua Lab, University of Colorado
January 2025
The PPP3CA Hope Foundation funded the development of a novel mouse model for the E282K variant—the most commonly identified PPP3CA mutation in the catalytic domain. This model serves as a critical tool for understanding disease mechanisms and evaluating potential therapeutic strategies.
Development and Characterization of D118N and D234E Mouse Models
The Jackson Laboratory
June 2024 – June 2026
Through a formal collaboration, the PPP3CA Hope Foundation is supporting the development and phenotypic characterization of mouse models for the D118N and D234E variants. This partnership enables rigorous in vivo modeling to better understand variant-specific disease biology and identify measurable endpoints for future therapeutic studies.
Simons Searchlight iPSC Program Collaboration
Simons Searchlight
2023 – Present
The PPP3CA Hope Foundation partners with Simons Searchlight to contribute global patient registry data and biospecimens for induced pluripotent stem cell (iPSC) generation, in collaboration with the New York Stem Cell Foundation.
These patient-derived iPSC lines provide a powerful platform for researchers to study PPP3CA disease mechanisms in human neurons and accelerate the discovery and testing of targeted therapies.