Understanding KIF1A-related neurological disease
Official title: Interrogation of Neurological Pathologies Associated with Mutations in Kif1a
Funded at Jackson Laboratory · NIH-11392450 · Data updated 2026-11-12
This project builds mouse models of KIF1A-related neurological disorder to help develop treatments for children and adults with KAND.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | September 1, 2023 |
| Project end | February 28, 2027 |
| Funding year | 2026 |
| Award (this year) | $433,867 |
| NIH project number | 5R33NS133266-04 |
| Project ID | NIH-11392450 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and adults diagnosed with KIF1A-associated neurological disorder (KAND) or families affected by KIF1A mutations are the population most likely to benefit from therapies guided by this work.
✕Less likely to help
People without KIF1A mutations or with unrelated neurological conditions are unlikely to receive direct benefit from this project.
What this research studies
If you or your child has KAND, this project will create mouse versions of the disease that mimic the symptoms people experience. Scientists will use these mouse models to test when treatments need to be given, whether adding extra copies of the gene helps, which brain or nerve cell types must be fixed, and how much genetic correction is needed to change the disease. The mice will also be used to test potential drugs or genetic therapies before they are considered for people. Results are intended to guide safer and more effective clinical trials for children and adults with KIF1A mutations.
Why it matters
Potential benefit: Could speed development of effective therapies and clarify when and how treatments must be given to slow or prevent KAND progression.
How similar studies have gone: Using mouse models to guide genetic-disease therapies is a common translational approach, but KIF1A-specific models are currently limited, so this work addresses an unmet need.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Lutz, Cathleen M — Jackson Laboratory
- Study coordinator: Lutz, Cathleen M
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.