Understanding how changes in genome structure can lead to developmental disorders
Official title: Disruption of three-dimensional genome organization as a noncoding mechanism of disease in human developmental disorders
Funded at Icahn School of Medicine at Mount Sinai · NIH-11179515 · Data updated 2026-11-12
This study is looking at how changes in the way our genes are organized in three dimensions might cause developmental disorders, and it aims to find specific genetic differences that could help improve diagnosis for these conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | November 1, 2024 |
| Project end | October 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $249,000 |
| NIH project number | 4R00HD108392-03 |
| Project ID | NIH-11179515 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with developmental disorders that may have a genetic component.
✕Less likely to help
Patients with developmental disorders that are not linked to genetic variations or those with purely environmental causes may not benefit from this research.
What this research studies
This research investigates how disruptions in the three-dimensional organization of the genome may contribute to developmental disorders. By using advanced statistical and functional genomics techniques, the team aims to identify noncoding genetic variations that could be responsible for these disorders. The study will focus on understanding the relationship between structural variations in the genome and their impact on gene expression, which could lead to better diagnostic methods for these conditions.
Why it matters
Potential benefit: If successful, this research could provide new insights into the genetic causes of developmental disorders, leading to improved diagnosis and potential therapeutic strategies.
How similar studies have gone: While there have been some studies exploring the role of noncoding variations in genetic disorders, this research aims to provide novel insights into a relatively uncharted area, making it a potentially groundbreaking approach.
Where this research is happening
-
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
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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.