How human 3D genome folding may shape brain development and autism
Investigating the role of human-specific 3D genome conformation in the context of brain development and disease
Researchers will compare 3D DNA folding in human and primate brain cells to find changes that could help explain autism and related developmental delays.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oregon Health & Science University NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-11238460 on NIH RePORTER |
What this research studies
If you or your child has autism, this project looks at how the brain's DNA folds differently in humans compared with other primates. The team will map 3D genome folding in well-validated cortical neural progenitor cells and glutamatergic neurons using 3C-based lab methods, then use computer-based mutagenesis to predict which folding changes alter gene activity. They will compare those findings to genetic disruptions seen in patients with developmental delay and autism and perform lab validation of the most promising changes. The work aims to link human-specific genome organization to gene expression differences that could underlie neurodevelopmental disorders.
Who could benefit from this research
Good fit: Ideal candidates would be people or parents of children diagnosed with autism or developmental delay who might provide clinical information or donate samples, especially from early childhood.
Not a fit: Patients seeking immediate treatments or those whose condition is unrelated to gene regulation and genome conformation are unlikely to gain direct clinical benefit from this project.
Why it matters
Potential benefit: If successful, this work could reveal DNA-folding changes that point to new biological targets for diagnosing or treating autism.
How similar studies have performed: Previous studies have linked genome folding to gene regulation and developmental disorders in non-brain cells, but applying these approaches to human brain cells is largely novel and not yet proven.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: Carbone, Lucia — Oregon Health & Science University
- Study coordinator: Carbone, Lucia
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.