How missing or extra copies of 16p11.2 affect brain cell development and function
Effects of 16p11.2 copy number variation on neuronal development and pathology
This work looks at how having too few or too many copies of the 16p11.2 genes changes how human nerve cells grow and function, with relevance for people who carry 16p11.2 deletions or duplications tied to autism or schizophrenia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11289402 on NIH RePORTER |
What this research studies
Researchers grow human induced pluripotent stem cells (iPSCs) with 16p11.2 deletions or duplications into neurons using both flat (2D) cultures and three-dimensional organoids to mimic brain development. They compare excitatory and inhibitory neurons to see how gene dosage changes affect cell migration, axon growth, synapse formation, and lipid metabolism. The team focuses on molecular pathways such as KCTD13-RhoA signaling and ceramide/lipid balance that prior models have implicated in neuronal dysfunction. Results from these human cell models will be compared with animal data to resolve conflicting findings and identify targets for future therapies.
Who could benefit from this research
Good fit: Ideal candidates are people with a confirmed 16p11.2 deletion or duplication who can provide a blood or skin sample for iPSC creation or agree to share existing biospecimens.
Not a fit: People without 16p11.2 copy-number changes or those seeking an immediate clinical treatment are unlikely to receive direct benefit from this laboratory-focused research.
Why it matters
Potential benefit: If successful, this research could point to specific biological pathways and biomarkers that guide development of future treatments for 16p11.2-linked neurodevelopmental conditions.
How similar studies have performed: Previous animal and human cell studies have highlighted KCTD13-RhoA signaling and lipid dysregulation but have yielded mixed and sometimes contradictory results, so this approach builds on promising but unproven leads.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Sahin, Mustafa — Boston Children's Hospital
- Study coordinator: Sahin, Mustafa
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.