Investigating how specific genetic mutations affect brain function and coordination.
Official title: Assessing synaptic and intrinsic effects of patient-derived ID-associated CACNA1A mutations using multiple models
Funded at Albert Einstein College of Medicine · NIH-11035835 · Data updated 2026-11-12
This study is looking at changes in a specific gene that can cause problems with coordination and headaches, to help us understand how these changes affect brain cells and could lead to better treatments for people with these conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | May 1, 2023 |
| Project end | December 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $63,840 |
| NIH project number | 3R21NS132111-02S1 |
| Project ID | NIH-11035835 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with disorders related to CACNA1A mutations, such as Episodic Ataxia type 2 or Familial Hemiplegic Migraine.
✕Less likely to help
Patients without CACNA1A mutations or those with unrelated neurological conditions may not benefit from this research.
What this research studies
This research focuses on mutations in the CACNA1A gene, which are linked to neurological disorders like Episodic Ataxia type 2 and Familial Hemiplegic Migraine. By examining how these mutations impact neuronal excitability and synaptic function, the study aims to clarify the relationship between genetic variations and the symptoms experienced by patients. The research utilizes multiple models to assess the effects of these mutations on brain cells, particularly in areas responsible for coordination and cognitive function. This could lead to a better understanding of the disorders and inform future treatment strategies.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and targeted therapies for patients with CACNA1A-related disorders.
How similar studies have gone: Previous research has shown promising results in understanding the effects of genetic mutations on neurological disorders, indicating that this approach has potential for success.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Kurshan, Peri T — Albert Einstein College of Medicine
- Study coordinator: Kurshan, Peri T
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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.