Understanding how neuron cilia dysfunction affects Tuberous Sclerosis Complex
Neuronal Primary Cilia Dysfunction in Tuberous Sclerosis Complex
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 ID | NIH-11071164 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Tuberous Sclerosis Complex, particularly those experiencing neurological symptoms.
Not a fit: Patients without a diagnosis of Tuberous Sclerosis Complex or those not experiencing neurological symptoms may not benefit from this research.
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 performed: 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, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Donovan, Kathleen — Boston Children's Hospital
- Study coordinator: Donovan, Kathleen
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.