Understanding how autism risk genes affect brain development
High-throughput Functional Analysis of Autism Risk Genes
['FUNDING_R01'] · YALE UNIVERSITY · NIH-11194498
This project looks at how many genes linked to autism change brain cells and wiring using fast lab models in fish and human stem cells to help people with autism and their families.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | YALE UNIVERSITY (nih funded) |
| Locations | 1 site (NEW HAVEN, UNITED STATES) |
| Trial ID | NIH-11194498 on ClinicalTrials.gov |
What this research studies
Researchers will use zebrafish because they allow many genes to be tested quickly and visibly across the whole brain. They will create and study zebrafish models for 50 autism-associated genes, mapping gene activity, brain structure, and neural activity patterns. The team will compare those fish results to human induced pluripotent stem cell (hiPSC) models to find biological changes that are shared across species. They will also test conserved drug-related pathways to point to possible treatment targets for subgroups of people with autism.
Who could benefit from this research
Good fit: People with a diagnosis of autism spectrum disorder or families willing to provide genetic information or donate blood/skin samples for iPSC derivation would be the most relevant candidates for sample-based participation.
Not a fit: Individuals without autism or those whose condition is unrelated to genetic risk factors are unlikely to receive direct benefits from this basic laboratory-focused research.
Why it matters
Potential benefit: If successful, this work could reveal shared biological pathways and drug targets that lead to new, more precise treatment approaches for subgroups of people with autism.
How similar studies have performed: Prior smaller-scale zebrafish and stem-cell work on about 10 autism genes found points of convergence, but scaling this high-throughput whole-brain and hiPSC comparison to 50 genes is a new expansion.
Where this research is happening
NEW HAVEN, UNITED STATES
- YALE UNIVERSITY — NEW HAVEN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HOFFMAN, ELLEN J — YALE UNIVERSITY
- Study coordinator: HOFFMAN, ELLEN J
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.
Conditions: Autistic Disorder