Investigating the role of autism risk genes in cilia formation
Official title: Beyond the Synapse: Convergence of Autism Risk Genes at the Cilium
Funded at University of California, San Francisco · NIH-11001814 · Data updated 2026-11-12
This study is looking at how certain genes linked to autism spectrum disorder (ASD) might affect tiny structures in our cells called cilia, which could help us understand more about ASD and lead to new ways to support those with the condition.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $43,027 |
| NIH project number | 1F99NS139536-01 |
| Project ID | NIH-11001814 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 comorbid conditions related to cilia defects.
✕Less likely to help
Patients without a diagnosis of autism spectrum disorder or related cilia defects may not benefit from this research.
What this research studies
This research explores the connection between autism spectrum disorder (ASD) and cilia defects, which are often seen in comorbid conditions. The study focuses on understanding how certain genes associated with ASD influence the formation and function of cilia, using advanced model systems like Xenopus and rodent models. By examining the localization and role of these genes, particularly SYNGAP1, the research aims to uncover new insights into the molecular mechanisms that may contribute to ASD. Patients may benefit from a deeper understanding of ASD's biological underpinnings, potentially leading to new therapeutic strategies.
Why it matters
Potential benefit: If successful, this research could provide new insights into the biological mechanisms of autism, potentially leading to improved treatments.
How similar studies have gone: While the investigation of cilia defects in relation to ASD is a novel approach, previous research has shown success in studying the role of specific genes in neurodevelopmental disorders.
Where this research is happening
-
University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Kostyanovskaya, Elina — University of California, San Francisco
- Study coordinator: Kostyanovskaya, Elina
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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.