Investigating how specific genes contribute to autism spectrum disorder.
Convergent mechanisms for neurodevelopmental disorder genes
['FUNDING_R01'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-11030733
This study is looking at how two important genes, ANK2 and SCN2A, might affect brain cells in ways that could help us understand autism better, using special imaging techniques to see what happens in the brain.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-11030733 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the molecular mechanisms linking two key genes, ANK2 and SCN2A, which are associated with autism spectrum disorder (ASD). By examining how these genes influence dendritic excitability and the localization of sodium channels in neurons, the study aims to uncover pathways that may contribute to the development of ASD. The research utilizes advanced techniques like 2-photon microscopy to visualize these processes in brain cells, providing insights into the biological underpinnings of the disorder.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autism spectrum disorder, particularly those with known genetic variants in the ANK2 or SCN2A genes.
Not a fit: Patients without a diagnosis of autism spectrum disorder or those not carrying relevant genetic variants may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for autism spectrum disorder by identifying critical pathways involved in its development.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to autism, making this approach a continuation of established scientific inquiry.
Where this research is happening
ANN ARBOR, UNITED STATES
- UNIVERSITY OF MICHIGAN AT ANN ARBOR — ANN ARBOR, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: JENKINS, PAUL MICHAEL — UNIVERSITY OF MICHIGAN AT ANN ARBOR
- Study coordinator: JENKINS, PAUL MICHAEL
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.