Investigating noncoding mutations in neurodevelopmental disorders
Noncoding mutations in neurodevelopmental disorders
This study is looking at how rare genetic changes that don’t code for proteins might be linked to conditions like autism and intellectual disabilities, and it’s for families affected by these disorders to help us understand the genetics behind them better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-11078248 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of rare noncoding mutations in neurodevelopmental disorders (NDDs) such as autism and intellectual disabilities. By analyzing genetic data from over 10,000 families, the researchers aim to identify specific noncoding regions that may contribute to these conditions. They will use advanced statistical methods and laboratory techniques to explore how these mutations affect gene regulation and development. This work could lead to a better understanding of the genetic factors involved in NDDs and potentially inform future treatments.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with neurodevelopmental disorders, particularly those with autism or intellectual disabilities.
Not a fit: Patients without a diagnosis of neurodevelopmental disorders or those with conditions unrelated to genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide insights into the genetic causes of neurodevelopmental disorders, leading to improved diagnosis and targeted therapies.
How similar studies have performed: Previous research has shown success in identifying genetic variants associated with neurodevelopmental disorders, but the focus on noncoding mutations is a relatively novel approach.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Turner, Tychele Naomi — Washington University
- Study coordinator: Turner, Tychele Naomi
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.