Research into MAPK8IP3 is beginning to complete a protein characterization study and create a MAPK8IP3 toolkit. Protein characterization will help researchers understand how the protein should work versus how the variant is working. Knowing this will guide researchers into what type of treatment option is best (medications/drugs versus gene therapy). The Wolverine Foundation is supporting the research initiatives.
Research Toolkit
- Mouse, zebrafish, and roundworm models for animal studies (this will help to study the variant and eventually test new treatment options instead of using human subjects)
- Cell lines using pluripotent stem cells or IPSCs (developed from a blood draw of participating individuals with a MAPK8IP3 gene variant). These IPSCs are blood cells that can be changed into neurons to study the variants.
- Natural History Study-see below for more information.
- Creating a research portal to allow researchers in different facilities to share data and findings in real time for better collaboration.
The Natural History Study
Dr. Wendy Chung and her team at the Chung Lab at Columbia University are leading the efforts to complete a Natural History Study. The goal of the study is to identify similarities and differences between individuals with MAPK8IP3 gene variants to develop best practice guidelines and study the syndrome over time. Researchers collect data from participants and follow participants over time to learn more about MAPK8IP3. The study complies with the ethical and privacy policies of Columbia University’s Institutional Review Board.
If you or your loved one has the MAPK8IP3 variant, we encourage you to read the information below:
If you would like to enroll in the study after reading the information, you can directly access the MAPK8IP3 Natural History Study on Columbia University’s platform (titled ASCEND: Advancing the Science, Care, and Exploration of Neurodevelopmental Disorders) here.
Thanks to the Wolverine Foundation, researchers from multiple universities and hospitals are collaboratively working together to study MAPK8IP3 with the goal of finding treatment.
Are you a Researcher Studying MAPK8IP3?
Contact the Wolverine Foundation.