Investigating mutations in a protein linked to autism in human neurons
Functional Characterization of ASD-Associated EEF1A2 Mutations in Human Neurons
This study is looking at how certain changes in a protein called EEF1A2 might affect brain cells and contribute to autism, with the hope of finding new ways to help people with autism.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10914654 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific mutations in the EEF1A2 protein, which is important for protein synthesis in neurons, may contribute to autism spectrum disorder (ASD). By examining human neurons, the study aims to uncover the role of EEF1A2 in neuronal development and function, particularly in relation to ASD-related behaviors and conditions. The researchers will utilize advanced techniques, including CRISPR, to analyze the effects of these mutations on neuronal health and behavior. This work could provide insights into the biological mechanisms underlying autism and potentially lead to new therapeutic approaches.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have been diagnosed with autism spectrum disorder or related conditions.
Not a fit: Patients who do not have mutations in the EEF1A2 gene or who are outside the age range of 0-11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children with autism spectrum disorder.
How similar studies have performed: Previous research has shown promising results in understanding the role of protein synthesis in autism, suggesting that this approach could yield valuable insights.
Where this research is happening
New York, United States
- New York University School of Medicine — New York, United States (Active)
Researchers
- Principal investigator: Mohamed, Muhaned — New York University School of Medicine
- Study coordinator: Mohamed, Muhaned
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.