Understanding how non-coding gene variants contribute to autism
Defining the gene regulatory roles of non-coding variants in the pathogenesis of autism
This study is looking at how certain genetic changes that don't code for proteins might influence autism, and it's designed to help families understand genetic tests better, especially for kids with autism whose parents don't have the condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project ID | NIH-10889132 on NIH RePORTER |
What this research studies
This research investigates the role of non-coding genetic variants in autism, focusing on how these variants may affect gene regulation and contribute to the condition. By analyzing genetic data from families with autism, the research aims to improve the interpretation of genetic tests, particularly whole genome sequencing. The approach includes studying de novo variants in children with autism who have unaffected parents, which may reveal new insights into the genetic underpinnings of the disorder. This work is expected to enhance diagnostic capabilities for families seeking answers about autism.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years diagnosed with autism, particularly those with unaffected parents.
Not a fit: Patients who do not have autism or are older than 11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic outcomes for families affected by autism.
How similar studies have performed: Other research has shown promise in understanding genetic contributions to autism, but this specific focus on non-coding variants is relatively novel.
Where this research is happening
Bronx, United States
- Albert Einstein College of Medicine — Bronx, United States (Active)
Researchers
- Principal investigator: Sosa, Eric Alexander — Albert Einstein College of Medicine
- Study coordinator: Sosa, Eric Alexander
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.