Transforming Research: The Natural History Study
What is the Natural History Study?
Dr. Wendy Chung and her team began this study at Columbia University, and the work is now continuing at Boston Children’s Hospital. The goal is to learn how MAPK8IP3-related neurodevelopmental disorder affects people over time, identify shared and different features, and help develop best-practice care guidelines.
How can families participate?
Families may choose the free online portion alone or participate in both the online and in-person portions. All families are encouraged to consider the online study because every contribution helps move research forward.
Online study
Families can share clinical information, such as MRI, EEG, and genetic test reports, and complete developmental and medical surveys. These surveys are repeated over time to help researchers understand changes in health, development, and support needs.
In-person assessments
Some participants may be invited to Boston Children’s Hospital for assessments such as an EEG, neuropsychological testing, or a motor assessment. The Wolverine Foundation has generously sponsored these in-person research visits and The CureMAPK8IP3 Foundation is assisting as funds are raised.
How to enroll
The online study is part of Boston Children’s Hospital’s ASCEND program: Advancing the Science, Care, and Exploration of Neurodevelopmental Disorders.Â
Advancing MAPK8IP3 Research
Supporting the Natural History Study and breakthrough research with Dr. Cameron Crowder at UAB to drive targeted therapeutic discovery.
Patient-Derived iPSC Lines
Induced pluripotent stem cell (iPSC) lines from patients recreate neuronal environments, allowing for precise study of MAPK8IP3 variants in human cells.
Biomarker Discovery
identifying specific biological markers help define this disease and response to potential treatments.
Zebrafish Model Screening
Zebrafish models alllow for rapid drug screening to identify promising compounds for future therapies.
The Wolverine Foundation, a private foundation, has done significant work on MAPK8IP3 research to drive it forward, including helping to fund our natural history study. We work in collaboration with them avoid duplication of research efforts.
Research Supported by the Foundation
Our Research Partnership with Dr. Camerron Crowder at the University of Alabama at Birmingham
Through donor generosity and the hard work of our board, we raised $10,000 to this spring (2026) to begin the first phase of MAPK8IP3 research and are working to raise another $15,000 to fully fund this critical phase by the end of fall.Â
We are partnering with Dr. Camerron Crowder at the University of Alabama at Birmingham. Her work uses zebrafish models and AI-supported research to explore how MAPK8IP3 variants affect nerve cells and to identify potential drug therapies for future testing.
Our research will begin by testing CRISPR guides to create zebrafish models representing three variants to see if it will be possible to use these guides to make models versus overexpression. We will also optimize patient-derived iPSC lines—cells made from a participant’s blood sample that can be developed into neuron subtypes. Dr. Crowder is currently working on differentiating a loss-of-function variant into dopaminergic and GABAergic neurons. This may reveal how variants affect nerve cells and identify potential biomarkers for drug targets.
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