New congenital glycosylation therapies and models
Official title: New Congenital Disorders of Glycosylation: Therapy and Models
Funded at Sanford Burnham Prebys Medical Discovery Institute · NIH-11377651 · Data updated 2026-11-12
Aimed at understanding how a therapeutic sugar used in glycosylation moves inside cells and which cellular pools contribute to making glycoproteins, with potential implications for treatment of congenital disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Sanford Burnham Prebys Medical Discovery Institute NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | May 1, 2014 |
| Project end | July 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $809,568 |
| NIH project number | 5R01DK099551-12 |
| Project ID | NIH-11377651 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with congenital disorders of glycosylation or related glycosylation defects could benefit from improved therapies or personalized models.
✕Less likely to help
People without glycosylation disorders may not directly benefit from this basic mechanistic work.
What this research studies
This project looks at how externally supplied sugars are used inside cells to build glycoproteins, revealing that different cytoplasmic pools of GDP-Fuc contribute in distinct ways. The team plans to map how de novo, exogenous, and salvaged fucose get incorporated into various glycoproteins and how cellular location (ER vs Golgi) affects this process. They will use 13C-labeled sugars, lectin binding, siRNA knockdown, and genome-wide CRISPR screens to uncover genes and transporters that regulate GDP-Fuc pools and fucose sorting. The work could identify targets to improve or tailor therapies for glycosylation-related disorders. Results may lead to better models and therapies for congenital glycosylation diseases.
Why it matters
Potential benefit: If successful, the research could inform new therapeutic strategies and model systems for congenital glycosylation disorders.
How similar studies have gone: Previous studies have shown that different GDP-Fuc pools contribute to glycosylation, supporting a pathway to targeted therapies, though this project advances understanding with novel techniques.
Where this research is happening
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Sanford Burnham Prebys Medical Discovery Institute
La Jolla, United States Active
Researchers
- Principal investigator: Freeze, Hudson H. — Sanford Burnham Prebys Medical Discovery Institute
- Study coordinator: Freeze, Hudson H.
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.