Understanding genetic causes of structural birth defects
Computational analysis of whole genome sequence data for discovering novel risk genes of structural birth defects
['FUNDING_R03'] · COLUMBIA UNIVERSITY HEALTH SCIENCES · NIH-10673600
This study is looking at the genes that might cause birth defects to help us understand why they happen, which could lead to better treatments for kids who are affected.
Quick facts
| Phase | ['FUNDING_R03'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | COLUMBIA UNIVERSITY HEALTH SCIENCES (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10673600 on ClinicalTrials.gov |
What this research studies
This research focuses on uncovering the genetic factors that contribute to structural birth defects by utilizing advanced computational methods. The team will analyze whole genome sequences to identify rare genetic variants that may play a role in these conditions. By integrating statistical analyses of both coding and noncoding regions of the genome, the research aims to discover new risk genes associated with birth defects. This work is particularly important as many children who survive severe birth defects face ongoing health challenges, and understanding the genetic basis can lead to better interventions.
Who could benefit from this research
Good fit: Ideal candidates for this research include children diagnosed with structural birth defects or those with a family history of such conditions.
Not a fit: Patients with birth defects that are well understood and have established genetic causes may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for children affected by structural birth defects.
How similar studies have performed: Previous genomic studies have successfully identified risk genes for birth defects, suggesting that this approach has the potential for significant findings.
Where this research is happening
NEW YORK, UNITED STATES
- COLUMBIA UNIVERSITY HEALTH SCIENCES — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SHEN, YUFENG — COLUMBIA UNIVERSITY HEALTH SCIENCES
- Study coordinator: SHEN, YUFENG
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: Cancers, neoplasm/cancer