How gene end-region (3'UTR) changes in the developing brain relate to autism and schizophrenia risk
Cellular and developmental genetic regulation of 3' isoform diversity in the human brain and its contribution to neuropsychiatric disorders
The team is looking at whether small changes at the ends of brain genes during early development help explain risk for autism and schizophrenia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11177033 on NIH RePORTER |
What this research studies
From my perspective, the researchers will combine large genetic datasets with single-cell methods, lab-grown brain cells, and human postmortem brain tissue to map how 3' untranslated regions (3'UTRs) and alternative polyadenylation change across development. They'll link those patterns to common genetic variants found in autism and schizophrenia to find which gene-end changes carry disease risk. The work uses high-resolution molecular profiling to see which cell types and developmental windows show the biggest effects. Results aim to point to specific molecular steps that could later become biomarkers or treatment targets.
Who could benefit from this research
Good fit: People affected by autism or schizophrenia, donors of postmortem brain tissue, or individuals willing to contribute genetic data or stem cells would be the most relevant participants.
Not a fit: People without neuropsychiatric conditions or those seeking immediate clinical treatments are unlikely to get direct benefit from this research.
Why it matters
Potential benefit: If successful, this could reveal new molecular mechanisms and biomarkers that guide future diagnostics or targeted therapies for autism and schizophrenia.
How similar studies have performed: Related approaches combining GWAS with functional genomics and isoform mapping have linked gene regulation to psychiatric risk, but applying this focus to alternative polyadenylation in the developing human brain is relatively new.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Gandal, Michael — University of Pennsylvania
- Study coordinator: Gandal, Michael
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.