Understanding KIF1A-related neurological disease
Interrogation of Neurological Pathologies Associated with Mutations in Kif1a
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 ID | NIH-11392450 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: People without KIF1A mutations or with unrelated neurological conditions are unlikely to receive direct benefit from this project.
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 performed: 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
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Lutz, Cathleen M — Jackson Laboratory
- Study coordinator: Lutz, Cathleen M
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 below.