Treating brain disorders caused by CACNA1A gene changes
Towards Novel Therapies for CACNA1A Neurological Disorders
This project aims to create lab-designed molecules that fix how CACNA1A gene changes disrupt brain cells for people with epilepsy, familial hemiplegic migraine, episodic ataxia, spinocerebellar ataxia, or related intellectual disability.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11285292 on NIH RePORTER |
What this research studies
Researchers will group hundreds of CACNA1A gene changes by how they alter the Cav2.1 calcium channel and test those effects in lab-grown human neurons made from patient cells. They will combine detailed channel biophysics with patient-derived induced pluripotent stem cell (iPSC) neurons and CRISPR-enabled tools to model disease mechanisms. Based on these groupings, the team will design and test bioengineered molecules to restore normal channel function in cells and in preclinical systems. The goal is to find molecule classes that could be developed into targeted therapies for specific types of CACNA1A-related disorders.
Who could benefit from this research
Good fit: Ideal candidates are people with known pathogenic or likely pathogenic CACNA1A mutations (or variants of uncertain significance under study) who have conditions such as epileptic encephalopathy, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, or related intellectual disability.
Not a fit: People whose neurological symptoms are not caused by CACNA1A changes (for example those from acquired brain injury, non-CACNA1A genetic causes, or unrelated disorders) are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could produce targeted therapies that restore calcium channel function and lessen seizures, migraines, ataxia, or cognitive problems in people with CACNA1A-related conditions.
How similar studies have performed: Related lab and animal studies using gene editing and molecular repair strategies have shown promise, but tailored therapies for CACNA1A channelopathies remain largely experimental and preclinical.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Colecraft, Henry M. — Columbia University Health Sciences
- Study coordinator: Colecraft, Henry 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.