Understanding neurological disorders linked to KIF1A gene mutations
Official title: Interrogation of Neurological Pathologies Associated with Mutations in Kif1a
Funded at Jackson Laboratory · NIH-10918325 · Data updated 2026-11-12
This study is looking at KIF1A-associated neurological disorder (KAND) to better understand how changes in a specific gene affect brain function, and it's creating mouse models to help find new treatments that could improve the lives of people with this condition.
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 | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $205,021 |
| NIH project number | 5R61NS133266-02 |
| Project ID | NIH-10918325 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children and adults diagnosed with KIF1A-associated neurological disorder or those exhibiting related neurological symptoms.
✕Less likely to help
Patients with neurological disorders not linked to KIF1A mutations may not receive any benefit from this research.
What this research studies
This research investigates KIF1A-associated neurological disorder (KAND), which is caused by mutations in the KIF1A gene that affect the transport of cellular materials in neurons. The study aims to develop mouse models that mimic the disease, allowing researchers to explore the mechanisms behind KAND and test potential new treatments. By examining how these mutations lead to various neurological symptoms, including muscle weakness and autism, the research seeks to identify effective therapeutic strategies. Patients may benefit from insights gained through these models, which could lead to improved treatment options.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly improve the quality of life for patients with KIF1A-associated neurological disorders.
How similar studies have gone: Previous research has shown promise in using mouse models to study genetic neurological disorders, indicating that this approach could yield valuable insights.
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.