How copy number changes in genes affect brain development and behavior
Functional Dissection of CNVs in Neurodevelopmental Traits
['FUNDING_R01'] · LURIE CHILDREN'S HOSPITAL OF CHICAGO · NIH-11182628
This project looks at how extra or missing copies of genes (called CNVs) can lead to developmental, attention, and behavioral differences in people with neurodevelopmental conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | LURIE CHILDREN'S HOSPITAL OF CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-11182628 on ClinicalTrials.gov |
What this research studies
From a patient's perspective, researchers combine genetic information from people with CNVs and experiments in animals like mice, rats, and zebrafish to find which specific genes cause symptoms. They change gene dose in these models to see which genes lead to brain, facial, or behavioral differences and to map interactions between multiple genes. By comparing results across species, the team aims to identify conserved biological pathways and potential drug targets that might one day inform therapies.
Who could benefit from this research
Good fit: People with known copy number variants (for example 16p11.2, 19p13.1, or other deletions/duplications) or families seeking genetic explanations for developmental or behavioral differences would be the most relevant participants.
Not a fit: Individuals without CNVs or whose symptoms are due to non-genetic causes are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, the work could pinpoint the exact genes and pathways behind CNV-linked conditions, enabling clearer diagnoses, prognosis, and new targets for treatment.
How similar studies have performed: Prior studies, including work from this team, have identified driver genes such as SIN3B and shown conserved CNV effects across species, but turning these findings into therapies remains early-stage.
Where this research is happening
CHICAGO, UNITED STATES
- LURIE CHILDREN'S HOSPITAL OF CHICAGO — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: DAVIS, ERICA ELLEN — LURIE CHILDREN'S HOSPITAL OF CHICAGO
- Study coordinator: DAVIS, ERICA ELLEN
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.