Understanding Genetic Complexity in Spina Bifida
Funded at Weill Medical Coll of Cornell Univ · NIH-11403761 · Data updated 2026-11-12
A study to find genetic clues that contribute to spina bifida in children by looking at whole genome data from families and using computer methods to spot risk factors.
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 | 2026 |
| Award (this year) | $702,941 |
| NIH project number | 5R01HD111089-04 |
| Project ID | NIH-11403761 on NIH RePORTER |
Who could benefit from this research
✓Could help
Families with a child affected by spina bifida or neural tube defects, and their biological parents, who consent to genomic sequencing.
✕Less likely to help
Families not meeting inclusion criteria or opting out of genetic sequencing will not benefit from this study.
What this research studies
This project looks at how genetic differences in coding and non-coding regions may contribute to spina bifida in children, using a broad, system-wide analysis of genomes from parent–child trios. Researchers will apply machine learning to identify rare, harmful variants and map their roles in SB-related pathways. The study collects and analyzes 200 new trios (600 genomes) to uncover gene interactions and potential drivers of the condition. The aim is to move beyond single-gene studies toward a fuller picture of how genetic factors shape SB risk in humans.
Why it matters
Potential benefit: If successful, findings could improve understanding of SB risk and inform future screening or prevention strategies for at-risk families.
How similar studies have gone: Previous SB genetic research in mice has guided understanding, but this human-focused, genome-wide approach is novel and aims to translate findings to human risk.
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.