Understanding how certain DNA repeats affect genetic disorders and gene expression
Official title: Investigating the Function of Highly Similar Intrachromosomal Repeats to Genomic Instability and Perturbed Gene Expression in Genetic Disorder
Funded at Pacific Northwest Research Institute · NIH-10973371 · Data updated 2026-11-12
This study is looking at how certain repeated sections of DNA can cause problems in genes, especially in children with developmental issues, to help us understand the genetic changes that might lead to various health conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pacific Northwest Research Institute NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $617,704 |
| NIH project number | 1R01GM152556-01A1 |
| Project ID | NIH-10973371 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children and individuals with known genetic syndromes linked to copy-number variants and genomic instability.
✕Less likely to help
Patients with genetic disorders not associated with copy-number variants or those with stable genomic structures may not benefit from this research.
What this research studies
This research investigates the role of highly similar intrachromosomal repeats in causing genomic instability and affecting gene expression, particularly in pediatric and neurodevelopmental diseases. By analyzing de novo and ultra-rare copy-number variants (CNVs), the study aims to uncover the mechanisms behind structural variations in DNA that can lead to genetic disorders. The research employs advanced sequencing methodologies to identify specific genomic changes and their implications for gene dosage sensitivity. This work could provide insights into the origins of various genetic syndromes linked to these DNA variations.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for genetic disorders caused by genomic instability.
How similar studies have gone: Previous research has shown success in understanding the role of copy-number variants in genetic disorders, indicating that this approach has a foundation in established scientific inquiry.
Where this research is happening
-
Pacific Northwest Research Institute
Seattle, United States Active
Researchers
- Principal investigator: Fonseca, Claudia Carvalho — Pacific Northwest Research Institute
- Study coordinator: Fonseca, Claudia Carvalho
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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.