The PPP3CA gene is responsible for producing a protein called calcineurin, which plays a crucial role in brain cell communication. Mutations in this gene can disrupt proper neuronal transmission, leading to neurodevelopmental, neurological, and neuropsychiatric disorders, including epilepsy. Since the PPP3CA gene is essential for many bodily functions, individuals may experience global developmental delays, intellectual disabilities, seizures, speech difficulties, feeding issues, sleep problems, autism, visual impairments, kidney/urinary issues, low muscle tone, limited mobility, or bone defects.

De Novo PPP3CA variants were first discovered in 2017. Since then, approximately 40 children have been diagnosed worldwide with this condition, which can be identified through whole genome sequencing or epilepsy genetic testing.

The PPP3CA Hope Foundation is a parent-led nonprofit with a mission to raise awareness, provide support to families impacted by PPP3CA gene mutations, and fund research aimed at finding a cure for those affected by PPP3CA variants.

Your gift will support research efforts focused on understanding the PPP3CA gene. The foundation is collaborating with researchers to better characterize the gene, with the hope of discovering potential treatments for our children and beyond. To learn more about our researchers and their plans to find a cure, please visit: www.ppp3ca.org

We invite you to join the PPP3CA Hope Foundation in our first 5K Run/Walk campaign.

Your donation, advocacy, and support are deeply appreciated.

PPP3CA Rare Disease Virtual 5K Run/Walk

by PPP3CA Hope Foundation

Team Members