Investigating how CACNA1A mutations affect nerve cell communication in worms.
Official title: Understanding the Impact of CACNA1A/unc-2 Mutations on Presynaptic Structure and Function in C. Elegans
Funded at Albert Einstein College of Medicine · NIH-11070672 · Data updated 2026-11-12
This study is looking at how certain changes in a gene related to conditions like episodic ataxia and migraines affect nerve cell communication, using tiny worms to help us understand what happens in the brain for people with these conditions.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | February 15, 2025 |
| Project end | February 14, 2027 |
| Funding year | 2025 |
| Award (this year) | $48,974 |
| NIH project number | 1F31NS137667-01A1 |
| Project ID | NIH-11070672 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with CACNA1A-related disorders, such as episodic ataxia type 2 or familial hemiplegic migraine type 1.
✕Less likely to help
Patients with conditions unrelated to CACNA1A mutations or those not exhibiting symptoms associated with the studied disorders may not benefit from this research.
What this research studies
This research explores the effects of specific mutations in the CACNA1A gene, which are linked to conditions like episodic ataxia and migraines. By using the model organism C. elegans, the study aims to understand how these mutations impact the structure and function of presynaptic terminals, which are crucial for neurotransmitter release. The researchers will compare the effects of these mutations to known loss-of-function and gain-of-function mutations to uncover the underlying mechanisms that contribute to cognitive dysfunction and other symptoms in patients.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of the mechanisms behind certain neurological disorders, potentially informing new treatment strategies.
How similar studies have gone: While this research builds on existing knowledge of CACNA1A mutations, the specific approach using C. elegans to study synaptic function is relatively novel and has not been extensively tested.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Krawchuk, Michael B — Albert Einstein College of Medicine
- Study coordinator: Krawchuk, Michael B
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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.