Understanding how NOTCH2NL genes affect brain development and neurological disorders.
Dissecting the role of NOTCH2NL genes in human brain development and neurological disorders associated with chromosome 1q21.1 distal duplications and deletions.
This study is looking at certain genes that might be linked to autism and schizophrenia to better understand how they affect brain development, which could help create new ways to diagnose and treat these conditions for people who are affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Santa Cruz NIH-funded |
| Lab location | 1 site (Santa Cruz, United States) |
| Project ID | NIH-10764251 on NIH RePORTER |
What this research studies
This research investigates the role of NOTCH2NL genes located on chromosome 1, which have been linked to neurodevelopmental disorders such as autism and schizophrenia. By analyzing genetic variations in diverse human populations, the researchers aim to identify specific alleles and structural changes associated with these conditions. The study employs advanced sequencing technologies to gather detailed genetic information, which will help in understanding how alterations in these genes impact brain development and contribute to neurological disorders. This knowledge could lead to the development of new diagnostic tools and therapies for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with autism, schizophrenia, or other neurodevelopmental disorders associated with chromosome 1q21.1 variations.
Not a fit: Patients without any genetic variations in the 1q21.1 region or those not affected by neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for neurological disorders linked to genetic variations.
How similar studies have performed: Previous research has shown associations between genetic variations in similar regions and neurodevelopmental disorders, indicating a promising avenue for further exploration.
Where this research is happening
Santa Cruz, United States
- University of California Santa Cruz — Santa Cruz, United States (Active)
Researchers
- Principal investigator: Salama, Sofie Reda — University of California Santa Cruz
- Study coordinator: Salama, Sofie Reda
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.