Exploring the genetic factors behind spina bifida
Official title: Understanding Genetic Complexity in Spina Bifida
Funded at Weill Medical Coll of Cornell Univ · NIH-10928177 · Data updated 2026-11-12
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 start | September 12, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $695,911 |
| NIH project number | 5R01HD111089-02 |
| Project ID | NIH-10928177 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include families with a history of spina bifida or children diagnosed with the condition.
✕Less likely to help
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.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
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Improving care and outcomes for people living with spina bifida in Wisconsin
A patient-friendly project aims to improve everyday care and health outcomes for people with spina bifida in Wisconsin.
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The National Spina Bifida Patient Registry at University of Pittsburgh
A national registry project at the University of Pittsburgh aims to collect and organize information about people with spina bifida to improve care.
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Improving Care and Outcomes for People Living with Spina Bifida
A patient-friendly project aims to improve how people with spina bifida are cared for and how well they do over time.
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Scoliosis and neurosurgical factors in myelomeningocele: a clinic registry study
This project uses registry data from Penn State’s Spina Bifida Clinic to understand how brain and spine-related issues influence when and why scoliosis surgery is needed in people with myelomeningocele.
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UMPIRE: Better Urologic Care for Babies with Spina Bifida
This grant tests how to best protect kidney function in newborns with spina bifida by comparing and refining urologic care practices across multiple hospitals.
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Spina Bifida Collaborative Care Network to Improve Outcomes
A national program is expanding coordinated care networks and a patient registry to help people with Spina Bifida get better, more consistent care.
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.