Understanding how specific genes affect brain function in autism
Investigating the Translatome in Genetic Models of Autism
This study is looking at how certain genes related to autism, called CHD8 and SCN2A, affect brain development using zebrafish, which could help us find new ways to support people with autism.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-10824339 on NIH RePORTER |
What this research studies
This research investigates the biological mechanisms underlying autism spectrum disorders (ASDs) by focusing on two key genes, CHD8 and SCN2A, using zebrafish models. The study employs advanced genomic technologies to analyze how the loss of function of these genes impacts translation regulation in the developing brain, particularly in neurons and glial cells. By utilizing techniques like Translating Ribosome Affinity Purification sequencing and single-cell RNA sequencing, the research aims to uncover cell type-specific deficits associated with ASD. This could lead to new insights into potential therapeutic targets for autism.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autism spectrum disorders or those with a family history of ASD.
Not a fit: Patients with autism spectrum disorders not linked to the genes CHD8 or SCN2A may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could identify new therapeutic targets for treating autism spectrum disorders.
How similar studies have performed: Previous research has shown promising results in understanding gene functions related to autism, making this approach a continuation of successful methodologies.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Hoffman, Ellen J — Yale University
- Study coordinator: Hoffman, Ellen J
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.