Understanding Sugar Use in Congenital Glycosylation Disorders
New Congenital Disorders of Glycosylation: Therapy and Models
This project aims to understand how cells use sugars, especially fucose, to help develop new treatments for congenital disorders of glycosylation.
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 ID | NIH-11184403 on NIH RePORTER |
What this research studies
Our cells need sugars to build important molecules, but in congenital disorders of glycosylation (CDG), this process doesn't work correctly. This project explores how cells manage different types of fucose sugar, which is crucial for proper cell function. We've found that cells organize these sugars into separate "pools" rather than mixing them all together. By studying how these sugar pools are regulated and used, we hope to uncover new ways to correct the underlying problems in CDG. This work involves detailed studies of how fucose is incorporated into different cell components and identifying the genes involved in this complex process.
Who could benefit from this research
Good fit: This foundational research is most relevant to patients living with congenital disorders of glycosylation who may benefit from future treatment advancements.
Not a fit: Patients seeking immediate new treatments or direct clinical intervention will not find direct benefit from this basic laboratory research.
Why it matters
Potential benefit: If successful, this work could lead to a deeper understanding of congenital disorders of glycosylation and pave the way for new therapeutic strategies.
How similar studies have performed: This project explores a novel concept of segregated sugar pools within cells, suggesting a new level of cellular organization not previously fully understood.
Where this research is happening
La Jolla, United States
- 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 below.