UNDERSTANDING THE RESEARCH
Recent research studies have identified several variances (mutations) occurring in the gene PPP2R5D that are related to or causing a host of neurodevelopmental disorders in the human brain. These disorders include Intellectual Disability (ID), some forms of Autism Spectrum Disorder and associated physical conditions. In addition, the identified mutations are also linked to Alzheimer’s Disease and certain forms of cancer.
FREQUENTLY ASKED QUESTIONS
It is believed the research could provide help to a significant portion of the world’s Autism cases. There are also potentially significant gains to be found those suffering from Alzheimer’s Disease (AD) and cancer. Specifically, the protein phosphatase 2A (PP2A) which is involved in mutations on PPP2R5D, is known to contribute to a condition resulting in Alzheimer’s Disease. Our research will provide more understanding of the role of PP2A in the brain and could lead to therapeutic targets for treating AD.
In addition, PP2A is also believed to be a tumor suppressor, and changes in PP2A are also believed to be important to cancer. Our research will provide more information on those connections and may provide more targets for specific drug interventions for cancer.
RESEARCH PROPOSAL & GOALS
Recently, our research team has identified variants on two additional genes. It is believed these variants are connected to the PPP2R5D study. We have now incorporated the variants on these genes, PPP2R51A and PPP2R5C, into our research. The symptoms and impacts appear similar to those caused by the mutation on the gene PPP2R5D which causes Jordan's Syndrome. We are welcoming families with loved ones impacted by these additional gene variations into our global community.
LEARN FROM THE EXPERTS
The research team goes in-depth to
explain what's known about PPP2R5D.