How calcium channel problems contribute to autism and developmental delays
Dissecting the Role of Ca2+ Channel Dysfunction in the Pathogenesis of Neurodevelopmental Disorders
This project links changes in brain calcium channels to autism and related developmental conditions to understand how altered calcium signaling affects nerve cell communication.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11321279 on NIH RePORTER |
What this research studies
This work looks at how changes in calcium channels in brain cells may lead to autism and other developmental delays. The team uses genetic information and laboratory models, including CRISPR-edited cells and animal models, to recreate specific gene changes linked to risk. They measure channel activity, neuron electrical signaling, and downstream effects on brain cell function. The goal is to connect particular mutations (like those seen in Timothy syndrome) to how neurons behave and to identify molecular steps that could be targeted later.
Who could benefit from this research
Good fit: People with autism or developmental delay who have known or suspected mutations in calcium channel genes, or families willing to provide genetic samples, would be most relevant to this work.
Not a fit: Patients without calcium channel gene changes or those seeking immediate clinical treatments are unlikely to see direct benefit from this basic science-focused project.
Why it matters
Potential benefit: If successful, the research could reveal specific molecular causes of some forms of autism and point to targets for future treatments or diagnostics.
How similar studies have performed: Previous studies have linked CaV1.2 channel mutations (for example in Timothy syndrome) to neurodevelopmental problems, but turning those findings into clinical treatments remains largely unproven.
Where this research is happening
Baltimore, United States
- University of Maryland Baltimore — Baltimore, United States (Active)
Researchers
- Principal investigator: Dick, Ivy E — University of Maryland Baltimore
- Study coordinator: Dick, Ivy E
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.