How rare schizophrenia genes affect human brain cells
Functional characterization of schizophrenia rare variants using genetically engineered human iPSCs
Researchers are seeing whether rare gene changes tied to schizophrenia alter how human-derived brain cells grow and work, which could help people with schizophrenia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11240273 on NIH RePORTER |
What this research studies
Scientists will use human induced pluripotent stem cells (hiPSCs) to create matched cell lines that differ only by single rare gene changes linked to schizophrenia. They will use CRISPR gene editing to introduce these protein-truncating variants and then turn the cells into neurons to look for differences in cell growth, structure, and function. Rescue experiments that lower or boost gene expression will test whether the changes are due to loss of the gene's normal function. The work is done in the lab at Johns Hopkins and focuses on biological clues that might point toward future treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with schizophrenia who carry one of the specific rare, protein-truncating variants identified by large genetic studies, or donors whose cells can be converted into iPSCs with those variants.
Not a fit: People without these specific rare genetic variants or those seeking immediate clinical treatment are unlikely to receive direct benefit from this laboratory-based research.
Why it matters
Potential benefit: If successful, this work could reveal how rare schizophrenia genes disrupt brain cells and point to new targets for therapies.
How similar studies have performed: Previous studies using iPSCs and CRISPR have uncovered disease-relevant changes in neurons for other brain conditions, but applying these methods to the ultra-rare schizophrenia variants is relatively new.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Li, Pan — Johns Hopkins University
- Study coordinator: Li, Pan
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.