3D genome changes that can cause developmental disorders
Disruption of three-dimensional genome organization as a noncoding mechanism of disease in human developmental disorders
['FUNDING_OTHER'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-11184503
This project looks for hidden DNA changes that alter how the genome folds in people with developmental disorders to find causes missed by standard genetic tests.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11184503 on ClinicalTrials.gov |
What this research studies
Researchers will analyze large sets of patient genomes to find structural changes in noncoding DNA that disrupt three-dimensional genome regions called TADs. They will build computational models to predict which of these disruptions are likely to be disease-causing. Promising variants will be tested with lab experiments that measure effects on nearby gene expression. The team will then determine whether adding these findings improves genetic diagnosis for families affected by developmental disorders.
Who could benefit from this research
Good fit: People, especially children, with developmental delays or congenital anomalies whose prior genetic testing did not find a clear cause are the most likely to benefit.
Not a fit: Patients whose condition is already explained by a known protein-coding mutation or who do not have structural noncoding variants are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could help diagnose more children and adults with unexplained developmental disorders by identifying pathogenic noncoding structural changes.
How similar studies have performed: A few case reports have linked noncoding structural changes to developmental disorders, but systematic prediction and experimental testing of 3D genome disruptions is still a novel approach.
Where this research is happening
NEW YORK, UNITED STATES
- ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LOWTHER, CHELSEA — ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- Study coordinator: LOWTHER, CHELSEA
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: Candidate Disease Gene