Chromatin changes that affect brain development in autism and intellectual disability
Chromatin dysregulation in neurodevelopmental disorders
Researchers are looking at how mutations in a chromatin protein called H1.4 change gene activity in developing brain cells to better understand Rahman syndrome, autism, and intellectual disability.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11332799 on NIH RePORTER |
What this research studies
This team focuses on mutations in the H1-4 (H1.4) gene that cause Rahman syndrome and other neurodevelopmental problems by putting the mutant protein into neuronal cells and observing what happens. They use biochemical tests, 3D chromatin mapping techniques, and recordings of neuronal activity to see how chromosome folding and gene expression are altered. Experiments use cellular and animal neuron models to trace how the mutant protein disrupts synaptic gene programs and neuron firing. The goal is to connect the molecular effects of the mutation to the cellular changes that could underlie developmental disability.
Who could benefit from this research
Good fit: People with Rahman syndrome or confirmed H1-4 (H1.4) mutations, and families affected by related intellectual disability or autism who are open to genetic research or sample donation, would be most relevant for related studies.
Not a fit: People whose neurodevelopmental condition is unrelated to H1-4 mutations or chromatin regulation are unlikely to see direct benefit from this specific work.
Why it matters
Potential benefit: If successful, the work could reveal specific molecular pathways behind some forms of intellectual disability and autism, pointing to future diagnostic markers or treatment targets.
How similar studies have performed: Prior basic-science work on chromatin regulators has linked gene-regulation defects to neurodevelopmental disorders, but translating those findings into therapies is still mostly untested.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: West, Anne Elizabeth — Duke University
- Study coordinator: West, Anne Elizabeth
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.