Understanding how neuron cilia dysfunction affects Tuberous Sclerosis Complex
Official title: Neuronal Primary Cilia Dysfunction in Tuberous Sclerosis Complex
Funded at Boston Children's Hospital · NIH-11071164 · Data updated 2026-11-12
This study is looking at how tiny hair-like structures in brain cells, called primary cilia, might be linked to the brain problems caused by Tuberous Sclerosis Complex, which can lead to issues like epilepsy and autism, with the hope of finding new ways to help improve treatment for those affected.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | January 3, 2025 |
| Project end | January 2, 2028 |
| Funding year | 2025 |
| Award (this year) | $45,132 |
| NIH project number | 1F31NS141557-01 |
| Project ID | NIH-11071164 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Tuberous Sclerosis Complex, particularly those experiencing neurological symptoms.
✕Less likely to help
Patients without a diagnosis of Tuberous Sclerosis Complex or those not experiencing neurological symptoms may not benefit from this research.
What this research studies
This research investigates the role of primary cilia in neurons affected by Tuberous Sclerosis Complex (TSC), a genetic disorder that leads to benign tumors and neurological issues like epilepsy and autism. The study focuses on how disruptions in these cilia may contribute to the neurological symptoms associated with TSC. By exploring the molecular mechanisms involved, the research aims to identify potential new therapeutic targets that could improve treatment outcomes for patients with TSC. The approach includes examining the structure and function of neuronal cilia in affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that better address the neurological symptoms of Tuberous Sclerosis Complex.
How similar studies have gone: While there has been research on mTORC1 inhibitors for TSC, the specific focus on primary cilia dysfunction in TSC is a novel approach.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Donovan, Kathleen — Boston Children's Hospital
- Study coordinator: Donovan, Kathleen
Related research
Other NIH-funded projects on the same topics.
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VIP Interneurons and Brain Circuits in Tuberous Sclerosis
A study to understand how loss of a brain gene (Tsc1) affects VIP interneurons and the frontal brain region in people and models with Tuberous Sclerosis Complex.
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Clinical Readiness to Treat Tuberous Sclerosis–Related Neuropsychiatric Issues
A large NIH grant aims to ready treatments for the neuropsychiatric and developmental challenges that many people with tuberous sclerosis complex (TSC) face, including autism-like symptoms and sleep or sensory problems.
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Understanding why renal tumors in TSC resist therapy to guide new nano-based treatments
Researchers are studying why kidney tumors in TSC patients resist current drugs, with the goal of designing smarter, more effective treatments that could help people with TSC-related AML.
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Immune causes of kidney disease in tuberous sclerosis
The team is looking at whether immune cells and a protein called B7-H3 help kidney cysts and growths in people with tuberous sclerosis complex.
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Improving care for autism, learning, sleep, and behavior issues in tuberous sclerosis
This project develops user-friendly tools, follows patients over time, and searches for sleep, sensory, and brain-activity markers to help people with tuberous sclerosis complex who have autism, intellectual disability, or other neuropsychiatric challenges.
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Investigating the role of specific proteins in kidney disease related to Tuberous Sclerosis Complex.
This study is looking at how certain proteins affect kidney problems in people with Tuberous Sclerosis Complex, with the hope of finding better treatments that could help improve kidney health and reduce the need for long-term medication.
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.