Investigating how genetic mutations affect brain cell structure and function.
Pooled Optical Imaging, Neurite Tracing, and Morphometry Across Perturbations (POINT-MAP).
['FUNDING_R21'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-10741188
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10741188 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with neurodevelopmental disorders or those with a family history of such conditions.
Not a fit: Patients with neurodevelopmental disorders not linked to genetic mutations may not benefit from this research.
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 performed: 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
NEW YORK, UNITED STATES
- 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.
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.
Conditions: Brain Diseases, Brain Disorders, Encephalon Diseases, Intracranial CNS Disorders, Intracranial Central Nervous System Disorders