Research into MAPK8IP3 has begun to complete a protein characterization study and create a MAPK8IP3 toolkit. Protein characterization helps researchers understand how the protein should work versus how the variant is working. Knowing this guides researchers into what type of treatment option is best (medications/drugs versus ASOs or gene therapy). The Wolverine Foundation has generously supported the research toolkit to set a research foundation into MAPK8IP3.
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 (the study began at Columbia University and is being continued at Boston Children’s Hospital) 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. You can choose to participate in the online portion (free) only or both the online and the in-person assessment portions of the study.
The online portion of the study is free to families and all families are encouraged to participate to help drive research forward. This portion consists of uploading clinical information about your child including tests reports (MRI, EEG, genetic test reports) and taking developmental/medical surveys about your child. This portion will be repeated over time to help us track developmental and medical history over time.
The second part of the study consists of in-person research assessments that may include an EEG (cap), neuropsychological test, and/or a motor assessment. These in-person assessments take place at Boston Children’s Hospital and will be funded by the CureMAPK8IP3 Foundation as raise funds.
If you would like to enroll in the online study, you can access the MAPK8IP3 Natural History Study at Boston Children’s Hospital (titled ASCEND: Advancing the Science, Care, and Exploration of Neurodevelopmental Disorders) here.