CHD7 gene and early brain development in CHARGE syndrome
Dissecting Cell Type Specific Functions of CHD7 in Development of the Neocortex
Learning how changes in the CHD7 gene affect early brain growth and thinking/behavior in people with CHARGE syndrome and related autism features.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11124089 on NIH RePORTER |
What this research studies
Researchers will use mouse models that carry the same single-copy CHD7 changes seen in people to track how those changes alter brain growth and circuitry during development. They will focus on the front part of the brain (prefrontal cortex), study specific cell types, and compare males and females to find where and when CHD7 matters. Lab methods such as ATAC-seq will be used to see which genes are turned on or off by CHD7, and experiments will examine synapse formation and cortical size. The team will combine these molecular and cellular maps to link gene control problems to the behavioral and cognitive features of CHARGE.
Who could benefit from this research
Good fit: People with CHARGE syndrome or known CHD7 mutations, and families affected by CHD7-related neurodevelopmental differences, would be most relevant to this research.
Not a fit: People whose neurodevelopmental conditions are caused by other genes or unrelated medical issues may not directly benefit from findings specific to CHD7.
Why it matters
Potential benefit: If successful, this work could point to biological pathways and cell types that explain CHARGE-related cognitive and autism features and guide future diagnostic or treatment development.
How similar studies have performed: Previous mouse studies have linked CHD7 loss to cortical abnormalities, but the cell-type and region-specific mechanisms proposed here remain largely untested.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Martin, Donna M. — University of Michigan at Ann Arbor
- Study coordinator: Martin, Donna M.
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.