Investigating how genetic mutations affect brain cell structure and function.
Official title: Pooled Optical Imaging, Neurite Tracing, and Morphometry Across Perturbations (POINT-MAP).
Funded at Icahn School of Medicine at Mount Sinai · NIH-10741188 · Data updated 2026-11-12
This study is looking at how rare genetic changes can affect brain development and function, which could help us understand more about neurodevelopmental disorders and lead to new treatments for patients.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | August 3, 2023 |
| Project end | August 2, 2025 |
| Funding year | 2023 |
| Award (this year) | $464,750 |
| NIH project number | 1R21MH131600-01A1 |
| Project ID | NIH-10741188 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with neurodevelopmental disorders or those with a family history of such conditions.
✕Less likely to help
Patients with neurodevelopmental disorders not linked to genetic mutations may not benefit from this research.
What this research studies
This research aims to understand the impact of rare genetic mutations on neurodevelopmental disorders by examining how these mutations affect the structure and function of neurons. Using a novel technology that combines optical imaging and genetic perturbation techniques, researchers will analyze neuronal morphology and synapse formation. Patients may benefit from insights gained about the genetic factors contributing to brain disorders, potentially leading to new therapeutic strategies. The study focuses on high-throughput functional genomics to elucidate the mechanisms behind these genetic variations.
Why it matters
Potential benefit: If successful, this research could lead to new understanding and treatments for neurodevelopmental disorders linked to genetic mutations.
How similar studies have gone: Previous research has shown promise in using genetic perturbation techniques to study neuronal function, indicating potential success for this novel approach.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Buxbaum, Joseph D. — Icahn School of Medicine at Mount Sinai
- Study coordinator: Buxbaum, Joseph D.
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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.