Understanding the causes of congenital disorders of glycosylation
Official title: Pathogenic Mechanisms of Congenital Disorders of Glycosylation
Funded at Greenwood Genetic Center · NIH-10913978 · Data updated 2026-11-12
This study is looking at a rare genetic condition called PMM2-CDG, which affects how the body processes certain sugars, and researchers are using zebrafish to learn more about how this condition works and how it might be treated in the future.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Greenwood Genetic Center NIH-funded |
| Lab location | 1 site (Greenwood, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $258,127 |
| NIH project number | 5R01GM149598-02 |
| Project ID | NIH-10913978 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with congenital disorders of glycosylation, particularly those with PMM2-CDG.
✕Less likely to help
Patients with other genetic disorders unrelated to glycosylation may not benefit from this research.
What this research studies
This research investigates congenital disorders of glycosylation (CDG), which are rare inherited diseases caused by genetic mutations affecting protein and lipid glycosylation. The team has developed a zebrafish model to study PMM2-CDG, the most common form of CDG, which results from mutations in the PMM2 gene. By analyzing this model, researchers aim to uncover how defects in glycosylation impact enzyme function and contribute to various clinical symptoms. The goal is to better understand the underlying mechanisms of these disorders to pave the way for new therapeutic approaches.
Why it matters
Potential benefit: If successful, this research could lead to the development of targeted therapies for patients with congenital disorders of glycosylation.
How similar studies have gone: Previous research has shown promise in using animal models to understand genetic disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Greenwood Genetic Center
Greenwood, United States Active
Researchers
- Principal investigator: Flanagan Steet, Heather R — Greenwood Genetic Center
- Study coordinator: Flanagan Steet, Heather R
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.