A center focused on discovering genetic causes of childhood diseases.
Pediatric Mendelian Genomics Research Center
This study is all about helping kids with rare genetic conditions by using advanced genetic testing to find out more about their unique genes, so doctors can better understand and treat these conditions.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project ID | NIH-11075208 on NIH RePORTER |
What this research studies
This research aims to enhance the understanding of Mendelian conditions that affect children by establishing a Pediatric Mendelian Genomics Research Center. The center will utilize advanced genetic testing techniques, including exome sequencing, to identify both coding and non-coding genetic variants that may contribute to these conditions. By collaborating with experts in pediatric care and genetics, the research will work to clarify uncertain genetic variants and improve the diagnosis and treatment of rare diseases in children.
Who could benefit from this research
Good fit: Ideal candidates for participation are children aged 0-11 years who are suspected of having Mendelian genetic conditions.
Not a fit: Patients with non-genetic conditions or those outside the age range of 0-11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnosis and treatment options for children with genetic disorders.
How similar studies have performed: Previous research has shown success in identifying genetic causes of diseases through advanced sequencing techniques, making this approach promising.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Vilain, Eric J. — University of California-Irvine
- Study coordinator: Vilain, Eric J.
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.