Investigating genetic factors affecting brain development and their link to neuropsychiatric disorders.
Cellular and developmental genetic regulation of 3' isoform diversity in the human brain and its contribution to neuropsychiatric disorders
This study is looking at how differences in our genes can affect brain development during pregnancy and may play a role in conditions like autism and schizophrenia, using brain samples and stem cells to find out more about these connections.
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-10972737 on NIH RePORTER |
What this research studies
This research focuses on understanding how genetic variations influence the development of the human brain, particularly during the second trimester, and how these variations may contribute to neuropsychiatric disorders like autism spectrum disorder (ASD) and schizophrenia. By integrating large-scale genomic data with functional genomic reference panels, the study aims to identify specific genetic mechanisms, such as alternative polyadenylation, that regulate gene expression in the developing brain. This approach involves analyzing brain tissues and stem-cell models to uncover dysregulation patterns associated with these disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder or schizophrenia, particularly those who are in the developmental stages of brain growth.
Not a fit: Patients with neuropsychiatric disorders unrelated to genetic factors or those who are not in the relevant age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the biological mechanisms underlying neuropsychiatric disorders, potentially informing targeted therapies and interventions.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to neuropsychiatric disorders, making this approach a continuation of established scientific inquiry.
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.