Q: What is PPP3CA?
A: PPP3CA (protein phosphatase 3 catalytic subunit alpha) is a protein coding gene. In 2017, research identified that mutations in this gene were biologically significant and more than likely the cause of our children’s disabilities. Genetic research is exploding worldwide and the PPP3CA Community is excited about the prospects of treatment and a cure in the near future.
Q: What is whole exome sequencing?
A: A genetic test that covers 20,000 genes, looking for spelling changes and large deletions and duplications of genetic material.
Q: How are children with a PPP3CA genetic mutation generally diagnosed?
A: PPP3CA is diagnosed through genetic testing. Often children with this mutation are also diagnosed with epilepsy, global development delays, hypotonia and autism. While there are less than 50 diagnosed children to date, it is estimated that 200+ children are undiagnosed with this condition.
Q: What does de novo mutation mean?
A: A de novo mutation means that the mutation is new; it is not present in either parent.
Q: Is this community researching any other disorders or genetic mutations?
A: No. The PPP3CA Hope Foundation is exclusively dedicated to the support and study of the PPP3CA gene.
Q: How is the PPP3CA Hope Foundation helping?
A: The PPP3CA Hope Foundation is a non-profit charity established in 2022 that is pursuing research and potential treatments for children with PPP3CA genetic mutations. Read more here.
Q: How will funds raised by the PPP3CA Hope Foundation be used?
A: The funding will go directly to the research that is currently underway. This includes further characterization of the PPP3CA gene. See how your contribution will lead to a cure here.
Q: How does it affect children?
A: According to medical research studies, mutations in PPP3CA result in global development delays, epilepsy/refractory seizures, hypotonia, autism and intellectual development. There is a wide spectrum of severity of these delays. Learn more here.
Q: Who is conducting the research?
A: Our research is currently being led by Dr. Peti Wolfgang, Dr. Mark Dell’Acqua and Dr. Martha Cyert. The PPP3CA Hope Foundation is currently running a fundraising campaign to expand and support the research. Read more here.
Q: What is the timeline?
A: It can take more than 10 years from initial research that is just beginning now to a potential FDA approved treatment. This is why your donation is so important. Researchers believe it will be 3 to 5 years for the initial modeling and characterization of the gene and to further understand the mechanism of action, 3 to 5 years to identify potential therapies that target the mechanism of action, and 3 to 5 years for potential therapies to be tested in clinical trials to an FDA approved product.
Q: What are iPSCs (induced pluripotent stem cells) and why are they important?
A: iPSCs are stem cells that come from skin or blood cells that can be differentiated to many cell types of the body. We can generate iPSCs from a patient’s own cells and learn a lot about their disorder. They are very useful to study the effect of new treatments on human cells, especially on neurons in the brain.
Q: How can I help?
A: If you are a parent/caregiver of someone with PPP3CA, contact us to join our community. This includes completing the PPP3CA registry, as well as joining Simons Searchlight (learn more here). This helps us learn more about PPP3CA and better target research efforts. If you are family, friends or other members of our larger community, please consider making a donation to help us expedite the path for a cure. Our children are waiting.