What genes contribute to spina bifida
Understanding Genetic Complexity in Spina Bifida
['FUNDING_R01'] · WEILL MEDICAL COLL OF CORNELL UNIV · NIH-11166650
This project looks at whole-genome changes in children with spina bifida and their parents to find genetic patterns that raise risk.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WEILL MEDICAL COLL OF CORNELL UNIV (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11166650 on ClinicalTrials.gov |
What this research studies
You would be asked to provide DNA from a child with spina bifida and both parents so the team can sequence whole genomes from about 200 family trios (600 genomes). The researchers will examine both protein-coding and noncoding DNA, use family-based and systems-biology methods to find inherited or new (de novo) mutations, and map affected molecular pathways. They will apply machine learning to highlight genes and combinations of genes most linked to spina bifida based on rare likely-damaging variants. The goal is to reveal gene-gene interactions and mechanisms that could guide future testing, counseling, or prevention efforts.
Who could benefit from this research
Good fit: Ideal participants are children with spina bifida and both biological parents willing to provide DNA samples and clinical information.
Not a fit: People without spina bifida, those unable to provide parental samples, or cases driven solely by non-genetic factors may not see direct benefit from participation.
Why it matters
Potential benefit: If successful, the work could identify genetic causes of spina bifida that improve risk prediction, genetic counseling, and point to biological targets for prevention.
How similar studies have performed: Previous mouse and candidate-gene studies found some risk signals but translating findings to humans has been challenging, making whole-genome sequencing of trios with machine learning a newer and promising 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.