Identifying genetic mutations that affect how genes are spliced
Discovering Splicing Defects in Human Genes
['FUNDING_R01'] · BROWN UNIVERSITY · NIH-10902018
This study is looking at how certain genetic changes can mess up the way genes work, which is important for conditions like autism, and it hopes to help patients by finding out which specific mutations might be causing these issues.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BROWN UNIVERSITY (nih funded) |
| Locations | 1 site (PROVIDENCE, UNITED STATES) |
| Trial ID | NIH-10902018 on ClinicalTrials.gov |
What this research studies
This research investigates how certain genetic mutations can disrupt the splicing process of genes, which is crucial for proper gene function. By analyzing a large number of genetic variants, the study aims to identify specific mutations that lead to splicing defects, particularly in relation to conditions like autism. The approach involves mapping these mutations across various genes and understanding their impact on gene expression. Patients may benefit from insights gained about genetic factors contributing to their conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with autism or related genetic disorders who may have undiagnosed genetic mutations.
Not a fit: Patients with conditions unrelated to genetic splicing defects may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for genetic disorders linked to splicing defects.
How similar studies have performed: Previous research has shown promise in identifying splicing mutations and their effects, suggesting that this approach could yield valuable insights.
Where this research is happening
PROVIDENCE, UNITED STATES
- BROWN UNIVERSITY — PROVIDENCE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: FAIRBROTHER, WILLIAM G — BROWN UNIVERSITY
- Study coordinator: FAIRBROTHER, WILLIAM G
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.
Conditions: Autistic Disorder