Evaluating uncertain genetic variants linked to intellectual disabilities
Official title: In vivo assessment of variants of uncertain significance in the intellectual disability gene ANKRD17
Funded at Boston Children's Hospital · NIH-10789572 · Data updated 2026-11-12
This study is looking at certain genetic changes in the ANKRD17 gene that might be linked to brain development issues, and it aims to find out if these changes are harmful or not, which could help families and doctors better understand and manage related conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 4, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $265,500 |
| NIH project number | 1R21HD113926-01 |
| Project ID | NIH-10789572 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with neurodevelopmental disabilities who have been identified with variants of uncertain significance in the ANKRD17 gene.
✕Less likely to help
Patients without any identified genetic variants or those with variants that are clearly pathogenic or benign may not benefit from this research.
What this research studies
This research investigates the impact of genetic variants of uncertain significance (VUS) in the ANKRD17 gene, which is associated with neurodevelopmental disabilities. The study aims to develop innovative methods to assess these variants in living organisms, particularly focusing on how they may affect brain development and function. By using advanced assays and animal models, the research seeks to determine whether these genetic changes are harmful or benign, providing clarity for affected families and clinicians. The findings could lead to better understanding and management of neurodevelopmental disorders linked to these genetic variants.
Why it matters
Potential benefit: If successful, this research could provide critical insights into the genetic causes of intellectual disabilities, leading to improved diagnosis and treatment options for affected individuals.
How similar studies have gone: Previous research has shown success in evaluating genetic variants using similar in vivo approaches, indicating potential for meaningful advancements in understanding neurodevelopmental disorders.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Warman, Matthew L — Boston Children's Hospital
- Study coordinator: Warman, Matthew L
Related research
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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.