Understanding brain disorders linked to genetic mutations
Official title: Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations - supplement #3
Funded at Boston Children's Hospital · NIH-11073724 · Data updated 2026-11-12
This study is all about building a strong support system to help researchers learn more about rare brain disorders caused by genetic changes, like TSC, PTEN, and SHANK3, and it aims to work closely with patient groups to find participants and share important updates.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | July 1, 2024 |
| Project end | July 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $480,655 |
| NIH project number | 3U54NS092090-10S2 |
| Project ID | NIH-11073724 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with TSC, PTEN, or SHANK3 mutations.
✕Less likely to help
Patients without these specific genetic mutations or those not affected by the associated disorders may not benefit from this research.
What this research studies
This research focuses on creating a strong administrative framework to support the Developmental Synaptopathies Consortium, which investigates rare brain disorders associated with genetic mutations like TSC, PTEN, and SHANK3. The team will work closely with patient advocacy groups to recruit participants and share important information. Experienced professionals, including physician/scientists and biostatisticians, will oversee the coordination of clinical research projects and ensure effective communication and collaboration among researchers. The goal is to enhance the design and implementation of studies that could lead to better understanding and treatment of these conditions.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with developmental synaptopathies.
How similar studies have gone: Previous research has shown success in similar collaborative approaches to studying genetic disorders, indicating potential for impactful findings.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Sahin, Mustafa — Boston Children's Hospital
- Study coordinator: Sahin, Mustafa
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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.