Investigating genetic factors and environmental influences on neural tube defects using frog models.
Project II - Modeling meningomyelocele in frog using human alleles and folic acid exposure
['FUNDING_P01'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-11017628
This study is looking at how certain genes and folic acid might affect the development of neural tube defects, like meningomyelocele, by using frogs to mimic these conditions, which could help improve understanding and treatment for people with these issues.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11017628 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding neural tube defects (NTDs), particularly meningomyelocele, by modeling these conditions in frogs using human genetic variants and studying the effects of folic acid exposure. The researchers aim to identify specific genetic mutations associated with NTDs and how these mutations interact with environmental factors. By utilizing the frog model, they can conduct high-throughput experiments to evaluate the impact of these genetic and environmental interactions on neural tube formation. This approach may lead to better predictions and treatments for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a diagnosis of neural tube defects, particularly meningomyelocele, or those with a family history of such conditions.
Not a fit: Patients without neural tube defects or those whose conditions are unrelated to genetic factors may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential interventions for neural tube defects, benefiting affected patients and families.
How similar studies have performed: Previous research has shown success in using animal models to study genetic and environmental interactions in various birth defects, indicating that this approach has potential for meaningful insights.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: KINTNER, CHRISTOPHER ROBERT — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: KINTNER, CHRISTOPHER ROBERT
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: 22q11 Chromosomal Microdeletion Syndrome, 22q11 Deletion Syndrome, 22q11.2 deletion syndrome, Autosomal dominant Opitz G/BBB syndrome