How rare schizophrenia-linked genetic changes affect human brain cells
Cellular consequences and convergent biology of schizophrenia-associated rare variants in the GPC cohort
This project looks at how specific rare genetic changes found in people with schizophrenia change the behavior of human nerve cells.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rutgers Biomedical and Health Sciences NIH-funded |
| Lab location | 1 site (Newark, UNITED STATES) |
| Project ID | NIH-11089539 on NIH RePORTER |
What this research studies
Researchers will use frozen blood cells already collected in a large national group (the Genomic Psychiatry Cohort) and reprogram them into stem cells that are then turned into neurons. They will study neurons carrying five rare, high-risk schizophrenia variants (NRXN1/2p16, 3q29, 15q13.3, 22q11.2 deletions, and 16p11 duplications) using high-content imaging, single-cell genomics, and multiplex “cell village” experiments. The team will look for shared molecular pathways and cellular problems caused by these variants to understand how they might lead to schizophrenia. Findings will be used to point to biological targets that could guide future therapies or patient-specific approaches.
Who could benefit from this research
Good fit: People with schizophrenia who are known to carry one of the listed rare genetic changes (NRXN1 2p16, 3q29, 15q13.3, 22q11.2 deletions, or 16p11 duplications) and who are enrolled in or have banked blood samples in the Genomic Psychiatry Cohort.
Not a fit: Patients without these specific rare variants or those seeking immediate changes to their clinical care are unlikely to receive direct benefit from this laboratory-focused work.
Why it matters
Potential benefit: If successful, the work could reveal shared cellular pathways behind high-risk schizophrenia variants and highlight targets for new treatments.
How similar studies have performed: Related studies using iPSC-derived neurons and single-cell genomics have revealed cellular changes in psychiatric and neurodevelopmental disorders, but applying this multi-variant, high-throughput approach across several high-risk schizophrenia variants is relatively new.
Where this research is happening
Newark, UNITED STATES
- Rutgers Biomedical and Health Sciences — Newark, United States (Active)
Researchers
- Principal investigator: Mulle, Jennifer Gladys — Rutgers Biomedical and Health Sciences
- Study coordinator: Mulle, Jennifer Gladys
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.