Understanding how CHD7 mutations affect brain development in autism and related disorders
Dissecting Cell Type Specific Functions of CHD7 in Development of the Neocortex
This study is looking at how changes in the CHD7 gene affect brain development, which is important for thinking and learning, and it's aimed at helping people with CHARGE syndrome and Autism Spectrum Disorder understand the reasons behind their challenges.
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-10876997 on NIH RePORTER |
What this research studies
This research investigates the role of the CHD7 gene in the development of the neocortex, which is crucial for cognitive functions. By studying mice with mutations in the CHD7 gene, researchers aim to uncover how these mutations lead to developmental issues associated with CHARGE syndrome and Autism Spectrum Disorder (ASD). The team will focus on specific cell types and developmental processes to understand the mechanisms behind these disorders. This research could provide insights into the biological underpinnings of behavioral and cognitive problems in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with CHARGE syndrome or Autism Spectrum Disorder.
Not a fit: Patients without a diagnosis of CHARGE syndrome or autism may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential interventions for individuals with CHARGE syndrome and autism.
How similar studies have performed: Previous research has shown promising results in understanding genetic influences on neurodevelopmental disorders, making this approach both relevant and potentially impactful.
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.