Exploring the genetic factors behind spina bifida
Understanding Genetic Complexity in Spina Bifida
This study is looking at the genes that might play a role in spina bifida, a birth defect that affects the spine, by examining the DNA of families with children who have the condition, to help us understand it better and find ways to support those at risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10928177 on NIH RePORTER |
What this research studies
This research investigates the genetic complexity of spina bifida, a serious birth defect affecting the spine. By analyzing whole genome sequences from families with affected children, the study aims to identify specific genetic variants that contribute to the condition. The approach combines advanced systems biology and machine learning techniques to uncover gene interactions and pathways involved in spina bifida. This comprehensive analysis could lead to better understanding and potential interventions for those at risk.
Who could benefit from this research
Good fit: Ideal candidates for this research include families with a history of spina bifida or children diagnosed with the condition.
Not a fit: Patients without a genetic predisposition to spina bifida or those who do not have a family history of the condition may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved risk assessment and targeted interventions for spina bifida, ultimately enhancing patient outcomes.
How similar studies have performed: Previous research has shown promise in understanding genetic factors in other neural tube defects, suggesting potential for success in this novel approach.
Where this research is happening
New York, United States
- Weill Medical Coll of Cornell Univ — New York, United States (Active)
Researchers
- Principal investigator: Ross, Margaret Elizabeth — Weill Medical Coll of Cornell Univ
- Study coordinator: Ross, Margaret Elizabeth
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.