Identifying genes that increase the risk of autism and their effects on the disorder
3/4 The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorder
This study is looking at the DNA of people and families affected by autism to find rare genetic changes that might increase the risk of developing autism, which could help us understand more about how autism works and lead to better support for those with the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Carnegie-Mellon University NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11006301 on NIH RePORTER |
What this research studies
This research investigates the genetic factors associated with autism spectrum disorder (ASD) by analyzing DNA from individuals and families affected by ASD. The study focuses on identifying rare genetic variations that may contribute to the risk of developing autism and how these variations impact the core features of the disorder. By examining a large dataset of over 72,000 individuals, the researchers aim to uncover new risk genes and understand their roles in autism's development. This could lead to better insights into the biological pathways involved in ASD.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with autism spectrum disorder and their family members.
Not a fit: Patients without a diagnosis of autism or those who do not have a family history of autism may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could enhance our understanding of autism and lead to improved diagnostic tools and targeted interventions for individuals with ASD.
How similar studies have performed: Previous research has successfully identified genetic factors associated with autism, indicating that this approach has potential for further discoveries.
Where this research is happening
Pittsburgh, United States
- Carnegie-Mellon University — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Roeder, Kathryn M — Carnegie-Mellon University
- Study coordinator: Roeder, Kathryn M
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.