Understanding how the CHAMP1 gene affects human brain development
Role of CHAMP1, a neurodevelopmental disorder high risk gene, in human brain development and function
['FUNDING_R01'] · MEDICAL UNIVERSITY OF SOUTH CAROLINA · NIH-11195134
This research explores how changes in the CHAMP1 gene impact human brain development, which can lead to conditions like intellectual disability and autism-like behaviors.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MEDICAL UNIVERSITY OF SOUTH CAROLINA (nih funded) |
| Locations | 1 site (CHARLESTON, UNITED STATES) |
| Trial ID | NIH-11195134 on ClinicalTrials.gov |
What this research studies
Our bodies have a gene called CHAMP1, and when it doesn't work correctly, it can lead to challenges like intellectual disability and behaviors similar to autism. This project aims to understand exactly how a faulty CHAMP1 gene affects the way human brain cells grow and move into place. Researchers will use advanced tools like detailed imaging and methods to study individual brain cells to see how these changes impact brain circuits. The goal is to uncover the specific problems caused by CHAMP1 gene changes in the human brain.
Who could benefit from this research
Good fit: This foundational research is for individuals and families affected by neurodevelopmental conditions, particularly those linked to CHAMP1 gene mutations or exhibiting autism-like behaviors.
Not a fit: Patients whose conditions are not related to CHAMP1 gene mutations or similar neurodevelopmental pathways may not directly benefit from this specific work.
Why it matters
Potential benefit: Successfully understanding CHAMP1's role could lead to new ways to help individuals with neurodevelopmental conditions linked to this gene.
How similar studies have performed: While mouse models have provided some initial insights, this is a novel approach focusing specifically on the CHAMP1 gene's role in human brain development.
Where this research is happening
CHARLESTON, UNITED STATES
- MEDICAL UNIVERSITY OF SOUTH CAROLINA — CHARLESTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BERTO, STEFANO — MEDICAL UNIVERSITY OF SOUTH CAROLINA
- Study coordinator: BERTO, STEFANO
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: Autistic Disorder