Understanding how genetic changes affect brain development in autism
Neurodevelopmental mechanisms in 17q12 CNV disorders and autism
This study is looking at how certain genetic changes, called copy number variants, affect brain development and autism, using special mice and human cells from people with these changes, to help us understand why some brains develop differently in autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brown University NIH-funded |
| Lab location | 1 site (Providence, United States) |
| Project ID | NIH-11180460 on NIH RePORTER |
What this research studies
This research investigates the impact of specific genetic changes, known as copy number variants (CNVs), on brain development and autism. By studying a unique mouse model and human stem cells from individuals with these genetic changes, the research aims to uncover the mechanisms that lead to brain abnormalities associated with autism. The focus is on a particular CNV, the 17q12 deletion, which has been identified as a significant risk factor for autism. Through this work, researchers hope to better understand how these genetic factors disrupt normal brain development.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a 17q12 deletion or duplication and related neurodevelopmental disorders.
Not a fit: Patients without genetic changes in the 17q12 region or those with unrelated neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the causes of autism and potentially inform future treatments or interventions.
How similar studies have performed: Previous research has shown promising results in understanding the role of genetic factors in autism, making this approach both relevant and potentially impactful.
Where this research is happening
Providence, United States
- Brown University — Providence, United States (Active)
Researchers
- Principal investigator: Morrow, Eric M — Brown University
- Study coordinator: Morrow, Eric 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.