Understanding how ASXL3 affects brain development and autism.
ASXL3 Links Chromatin Biology to Neurodevelopment Disorders
This study is looking at how a gene called ASXL3 affects brain development and its link to autism, using brain cells from patients to better understand how changes in this gene might lead to conditions like autism and Bainbridge Ropers Syndrome, with the hope of finding new ways to help.
Quick facts
| Grant type | Fellowship 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-10903007 on NIH RePORTER |
What this research studies
This research investigates the role of the ASXL3 gene in brain development and its connection to autism spectrum disorder (ASD). By studying how ASXL3 influences histone modifications, which are crucial for gene regulation during brain cell differentiation, the research aims to uncover the underlying mechanisms of neurodevelopmental disorders. The approach includes using neural progenitor cells derived from patients to model the effects of ASXL3 mutations and their impact on brain function. Through this work, researchers hope to identify potential therapeutic targets for conditions like Bainbridge Ropers Syndrome and ASD.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder or Bainbridge Ropers Syndrome, particularly those with identified ASXL3 mutations.
Not a fit: Patients without ASXL3 mutations 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 and treatments for autism and related neurodevelopmental disorders.
How similar studies have performed: Previous research has shown promising results in understanding the role of chromatin biology in neurodevelopmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Peirent, Emily Rose — University of Michigan at Ann Arbor
- Study coordinator: Peirent, Emily Rose
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.