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 (to identify similiarities and differences between individuals with a MAPK8IP3 gene variant with the goal of developing best practice guidelines and study the syndrome over time)
  • Creating a research portal to allow researchers in different facilities to share data and findings in real time for better collaboration

Meet the Research Team

Read profiles of the team here.

Are You a Patient or Family affected by MAPK8IP3?

To learn more about the Natural History Study, contact Alexa Geltzeiler, Genetic Counselor, Columbia University Irving Medical Center.

Are You a Researcher Studying MAPK8IP3?

Contact the Wolverine Foundation.