Identifying genetic variants in urea cycle disorders
Expert curation of sequence variants in the proximal urea cycle genes
This study is looking at genetic issues in the urea cycle that can cause serious health problems in children, and it aims to create a helpful list of genetic changes that doctors can use to make better diagnoses and provide better care for these kids.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Research Institute NIH-funded |
| Lab location | 1 site (Washington, United States) |
| Project ID | NIH-11110314 on NIH RePORTER |
What this research studies
This research focuses on understanding genetic defects in the urea cycle, which can lead to serious health issues like hyperammonemia and neurological injuries in children. By curating a comprehensive catalogue of clinically actionable genetic variants related to three specific urea cycle enzymes, the project aims to improve the accuracy of diagnoses for affected patients. The approach involves collaboration with an expert panel to classify and interpret genetic variants, ensuring that healthcare providers have access to reliable information for patient care. This effort is crucial for early diagnosis and intervention, potentially improving outcomes for children with these disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include children under 11 years old who are suspected of having urea cycle disorders or have been diagnosed with related conditions.
Not a fit: Patients with urea cycle disorders caused by genetic variants not included in the study may not receive benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and better management of urea cycle disorders in children.
How similar studies have performed: Previous research has shown success in similar approaches to genetic variant curation, indicating a promising potential for this project.
Where this research is happening
Washington, United States
- Children's Research Institute — Washington, United States (Active)
Researchers
- Principal investigator: Caldovic, Ljubica Morizono — Children's Research Institute
- Study coordinator: Caldovic, Ljubica Morizono
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.