Investigating how ion channels affect brain development disorders
Role for ion conducting proteins in cortical malformation diseases
This study is looking at how certain proteins in our cells might affect brain development and lead to malformations, and it invites patients to share genetic samples to help us understand these conditions better.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, UNITED STATES) |
| Project ID | NIH-11042160 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of ion conducting proteins in the development of brain malformations. By using advanced techniques in molecular genetics and neurobiology, the study aims to bridge the gap between genomic data and functional outcomes in human neurodevelopment. The research involves analyzing how genes that influence cellular excitability can impact the formation of neural circuits, utilizing methods such as calcium imaging and electrophysiology. Patients may contribute to this research by providing genetic samples that help elucidate the mechanisms behind these brain disorders.
Who could benefit from this research
Good fit: Ideal candidates for participation are individuals with diagnosed brain malformations or related neurodevelopmental disorders.
Not a fit: Patients with brain conditions unrelated to ion channel dysfunction may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for brain malformation diseases.
How similar studies have performed: While the specific focus on ion channels in cortical malformations is relatively novel, similar approaches in neurogenomics have shown promise in other areas of brain research.
Where this research is happening
Chicago, UNITED STATES
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Smith, Richard S — Northwestern University
- Study coordinator: Smith, Richard S
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.