Synapse-related genetic conditions linked to TSC, PTEN, SHANK3, and SynGAP1
Developmental Synaptopathies Associated with TSC, PTEN, SHANK3 and SynGAP1 Pathogenic Variants
Developing therapies and markers to help children and adults with genetic syndromes (TSC, PTEN, SHANK3, SynGAP1) that often cause autism and intellectual disability.
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 ID | NIH-11173355 on NIH RePORTER |
What this research studies
This consortium studies how specific gene changes (TSC1/2, PTEN, SHANK3, SynGAP1) disrupt synapses and lead to autism and developmental differences. Researchers combine lab experiments (cells and animal models), analysis of human samples, and clinical work to find biological markers and measures that can be used in trials. The team has developed potential biomarkers and outcome assessments and has launched treatment trials for tuberous sclerosis complex. The goal is to turn shared biological findings into therapies and tools to speed up clinical trials for these genetic conditions.
Who could benefit from this research
Good fit: People with confirmed pathogenic variants in TSC1/2, PTEN, SHANK3, or SynGAP1 and related symptoms such as autism, developmental delay, or intellectual disability are the main candidates.
Not a fit: Individuals without these specific genetic diagnoses or whose symptoms stem from unrelated causes are unlikely to gain direct benefit from this program.
Why it matters
Potential benefit: May produce new treatments, biomarkers, and clinical measures that improve diagnosis, monitoring, and care for people with these genetic synaptopathies.
How similar studies have performed: Prior work in TSC and related genetic disorders has yielded promising biomarkers and early treatment trials, but extending these successes to other synaptopathies is still in progress.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Sahin, Mustafa — Boston Children's Hospital
- Study coordinator: Sahin, Mustafa
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.