Effects of CDKL5 deficiency on brain activity related to vision
Official title: Impact of CDKL5 deficiency on thalamocortical dynamics
Funded at Yale University · NIH-10995279 · Data updated 2026-11-12
This study is looking at how a genetic disorder called CDKL5 deficiency changes the way the brain processes what we see, and it's for people with this condition and their families to help understand the visual challenges and behaviors they might experience.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | December 1, 2023 |
| Project end | November 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $33,950 |
| NIH project number | 5F31EY035937-02 |
| Project ID | NIH-10995279 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with CDKL5 deficiency disorder, particularly those exhibiting symptoms related to autism spectrum disorder and visual impairments.
✕Less likely to help
Patients without CDKL5 deficiency or those who do not exhibit symptoms related to autism spectrum disorder may not benefit from this research.
What this research studies
This research investigates how a genetic disorder called CDKL5 deficiency affects brain activity related to visual processing. It focuses on understanding the differences in thalamocortical dynamics, which are crucial for visual perception, in both mice and humans with this condition. By using advanced techniques to monitor brain activity, the study aims to uncover how the lack of CDKL5 alters the way the brain processes visual information and how this relates to symptoms seen in autism spectrum disorder. The findings could provide insights into the underlying mechanisms of visual impairment and behavioral issues in affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for visual and behavioral challenges faced by patients with CDKL5 deficiency and related disorders.
How similar studies have gone: Other research has shown promising results in understanding the neurological impacts of genetic disorders on sensory processing, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Oren, Rachel — Yale University
- Study coordinator: Oren, Rachel
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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.