How 17q12 genetic changes affect brain development in autism and related conditions
Neurodevelopmental mechanisms in 17q12 CNV disorders and autism
Researchers are comparing patient-derived cells and mouse models with 17q12 deletions or duplications to learn how these gene changes lead to brain differences linked to autism and other neurodevelopmental conditions.
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-11323128 on NIH RePORTER |
What this research studies
If you or a family member carry a 17q12 deletion or duplication, this team uses cells made from patient samples (iPSCs) and specially bred mice that carry the same genetic change to study brain development. They focus on how losing or gaining genes in the 17q12 region, including the transcription factor LHX1 and related Wnt signaling, alters brain cell growth, wiring, and craniofacial features. The project compares deletions versus duplications and looks at how different genetic backgrounds change the severity of effects. Findings aim to pinpoint the biological steps that cause increased autism risk in people with 17q12 CNVs.
Who could benefit from this research
Good fit: Ideal candidates are people with a confirmed 17q12 deletion or duplication who can provide a blood or skin sample for making patient-derived cells, or family members involved in related genetic studies.
Not a fit: People with autism who do not carry a 17q12 copy-number change or those seeking immediate treatment effects are unlikely to receive direct benefit from this lab-focused research.
Why it matters
Potential benefit: If successful, the work could reveal specific biological pathways to target for future diagnostics or therapies and help predict which individuals with 17q12 CNVs are at higher risk for autism.
How similar studies have performed: Using patient iPSCs and mouse models to study CNVs has previously clarified disease mechanisms, though such work more often advances understanding than produces immediate therapies.
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.