Understanding how CHD7 mutations affect brain development in autism and related disorders
Official title: Dissecting Cell Type Specific Functions of CHD7 in Development of the Neocortex
Funded at University of Michigan at Ann Arbor · NIH-10876997 · Data updated 2026-11-12
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 start | July 1, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $528,722 |
| NIH project number | 5R01NS129562-02 |
| Project ID | NIH-10876997 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with CHARGE syndrome or Autism Spectrum Disorder.
✕Less likely to help
Patients without a diagnosis of CHARGE syndrome or autism may not benefit from this research.
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.
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 gone: 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
-
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.
Related research
Other NIH-funded projects on the same topics.
-
Expanding genetic testing for cancer risk in patients and families
This study is working to make it easier for cancer patients in Michigan to get genetic testing for cancer risk by improving how doctors gather family history and assess genetic risks, so that more people can receive the important evaluations they need.
-
HEARTS hypertension and diabetes care in Guatemala
This grant tests how well the HEARTS primary care model works in Guatemala to improve blood pressure and blood sugar control for patients.
-
Why the retina can sometimes heal itself and how we might help it heal
This NIH grant explores how inflammation and neural cells interact in the zebrafish retina to understand retinal neuron death and regeneration, with potential implications for human vision.
-
Integrated Heart Health: A HEARTS-based approach to hypertension and diabetes in Guatemala
A study tests a team-based, stepwise care model to improve blood pressure and blood sugar control for people with both hypertension and diabetes in Guatemala.
-
Understanding how work exposures and genes influence ALS risk
A study is building a long-term group of people at higher risk for ALS to see how their jobs, exposures at work, and genes together affect if and when the disease might develop.
-
An integrated mobile health program to reduce SAVA and mental health problems among female sex workers in Kenya
A new mobile health program aims to help female sex workers in Kenya avoid substance abuse, violence, HIV, and depression by delivering group therapy, online resources, and a peer discussion space.
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.