Exploring ways to improve treatment for Phelan-McDermid syndrome by studying a specific protein's regulation
Harnessing post-translational regulation of SHANK3 as a boosting strategy for Phelan-McDermid syndrome
This study is looking at how a protein called SHANK3 affects brain development and is linked to Phelan-McDermid syndrome, which causes developmental delays and learning challenges in kids, with the hope of finding new treatments to help improve brain function for those with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11074055 on NIH RePORTER |
What this research studies
This research investigates the role of the SHANK3 protein in brain development and its connection to Phelan-McDermid syndrome, a condition that leads to significant developmental delays and intellectual disabilities in young children. By examining how SHANK3 is regulated after it is produced, the researchers aim to uncover potential therapeutic strategies that could help restore normal brain function. The study employs a combination of biochemical techniques, behavioral assessments, and neurophysiological methods to explore the effects of specific inhibitors on SHANK3 and its associated pathways. The ultimate goal is to develop targeted treatments for individuals affected by this syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under the age of two who have been diagnosed with Phelan-McDermid syndrome or have SHANK3 mutations.
Not a fit: Patients who do not have SHANK3 mutations or are older than two years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve developmental outcomes for children with Phelan-McDermid syndrome.
How similar studies have performed: While the specific approach of targeting SHANK3 regulation is novel, similar research has shown promise in understanding and treating other neurodevelopmental disorders.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Holder, Jimmy L — Baylor College of Medicine
- Study coordinator: Holder, Jimmy L
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.