Investigating a gene linked to Tourette syndrome
Official title: Exploring the role of the protocadherin CELSR3 in Tourette syndrome
Funded at University of Utah · NIH-10532254 · Data updated 2026-11-12
This study is looking at how a specific gene called CELSR3 might be linked to Tourette syndrome, using special mice to see how changes in this gene could help us understand the condition better and find new treatments for people with TS.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | December 1, 2021 |
| Project end | September 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $190,625 |
| NIH project number | 5R21NS125519-02 |
| Project ID | NIH-10532254 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Tourette syndrome, particularly those with a family history of the disorder.
✕Less likely to help
Patients without a diagnosis of Tourette syndrome or those with other unrelated neurological disorders may not benefit from this research.
What this research studies
This research focuses on understanding the genetic factors contributing to Tourette syndrome (TS), particularly the role of the CELSR3 gene. By using transgenic mouse models with mutations in this gene, researchers aim to uncover how CELSR3 deficiency may lead to the development of TS. The study builds on recent findings that suggest protocadherins, proteins involved in cell communication, are significant in TS pathogenesis. This work could provide insights into more effective treatments for individuals affected by TS.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies that specifically address the underlying genetic causes of Tourette syndrome, improving treatment outcomes for patients.
How similar studies have gone: Previous research has shown promising results in understanding genetic contributions to Tourette syndrome, making this approach a continuation of successful investigations in the field.
Where this research is happening
-
University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Bortolato, Marco — University of Utah
- Study coordinator: Bortolato, Marco
Related research
Other NIH-funded projects on the same topics.
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Precision brain mapping of tics in children with Tourette syndrome
A new study uses advanced MRI to map brain activity in individual kids with Tourette syndrome to understand why tics differ from child to child.
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Digital tic-detection partner to support Tourette syndrome therapy
A computer vision system will help detect tics in children and youths with Tourette syndrome to support behavioral therapy at home and in real life.
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Quantifying Tourette tics with video and computer tools
This project aims to develop and test video-based, automated ways to measure tic severity in people with Tourette Syndrome.
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Brain-feedback training to help teens with Tourette control tics
This project teaches teenagers with Tourette syndrome to use real-time MRI brain-feedback to change activity in a motor brain area with the goal of reducing tics.
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International collaboration mapping genes and brain scans in Tourette syndrome
This project brings together MRI brain scans and genetic data from people with Tourette syndrome and related conditions to spot biological patterns linked to tics and co-occurring symptoms.
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How Tourette syndrome develops in the brain
Researchers are using donated brain tissue and patient-derived stem cells to learn why people with Tourette syndrome have fewer specific brain cells in the basal ganglia.
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.