Understanding protein sugar addition problems in rare genetic disorders
Identifying understudied protein-related glycoproteome disruption in Congenital Disorders of Glycosylation
This study is looking at rare genetic conditions called congenital disorders of glycosylation (CDG) to find out how certain proteins are affected by genetic changes, with the hope of discovering new ways to help improve the health of people living with these disorders.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10725869 on NIH RePORTER |
What this research studies
This research investigates congenital disorders of glycosylation (CDG), which are rare genetic diseases that disrupt the process of adding sugar structures to proteins. By analyzing patient samples using advanced mass spectrometry techniques, the study aims to identify specific proteins that are affected by genetic mutations and contribute to the symptoms of CDG. The goal is to uncover the underlying mechanisms of these disorders and explore potential new treatment strategies that could improve patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with congenital disorders of glycosylation, particularly those with known genetic mutations affecting glycosylation processes.
Not a fit: Patients with other genetic disorders not related to glycosylation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and treatment options for patients suffering from congenital disorders of glycosylation.
How similar studies have performed: While the approach of studying glycoproteomic disruptions in CDG is relatively novel, similar research in other genetic disorders has shown promising results in understanding disease mechanisms and developing targeted therapies.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Edmondson, Andrew Charles — Children's Hosp of Philadelphia
- Study coordinator: Edmondson, Andrew Charles
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.