Understanding how the ANK2 gene affects brain function in autism
Official title: Elucidating the synaptic interactome of the high risk autism gene ANK2
Funded at University of Pennsylvania · NIH-10982482 · Data updated 2026-11-12
This study is looking at how a specific gene related to autism affects how brain cells connect and work together, which could help us understand more about autism and how it impacts the brain, ultimately benefiting those with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $375,784 |
| NIH project number | 5R01MH127848-04 |
| Project ID | NIH-10982482 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with autism spectrum disorder, particularly those with known variants in the ANK2 gene.
✕Less likely to help
Patients without a diagnosis of autism spectrum disorder or those not carrying variants in the ANK2 gene may not benefit from this research.
What this research studies
This research investigates the role of the ANK2 gene, which has been linked to autism spectrum disorder (ASD), in brain connectivity and function. By using advanced techniques like mass spectrometry and microscopy, the study aims to identify how different forms of the ankyrin-B protein interact with other proteins in the brain. This could help clarify the biological mechanisms behind ASD and how they affect synaptic function and brain structure. Patients with ASD may benefit from insights gained about the genetic factors influencing their condition.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of autism and potentially inform new treatment strategies.
How similar studies have gone: Previous research has shown promising results in understanding genetic factors in autism, making this approach both relevant and potentially impactful.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Lorenzo, Damaris N — University of Pennsylvania
- Study coordinator: Lorenzo, Damaris N
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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.