Genomic screening for newborns and children to identify genetic disorders early
Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics
This study is looking at a new way to check children's genes during regular check-ups to help parents find out about any genetic conditions early on, so they can get the right care for their kids.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-11099519 on NIH RePORTER |
What this research studies
This research investigates a new approach to genomic screening based on the age of children, aiming to provide parents with actionable genetic information during routine wellness visits. By focusing on specific time-points in infancy and childhood, the study seeks to identify genetic conditions that can be screened for and potentially treated early. The project will involve collaboration with experts and community stakeholders to ensure the screening process is effective and accessible. The goal is to overcome challenges in applying genomic sequencing in healthy populations to prevent or mitigate symptoms of genetic disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include newborns, infants, and children up to 11 years old who are undergoing routine health check-ups.
Not a fit: Patients who are adults or those who do not have children may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier detection and intervention for genetic disorders in children, improving health outcomes.
How similar studies have performed: Other research has shown promise in using targeted genomic screening in pediatric populations, indicating that this approach could be effective.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Berg, Jonathan S — Univ of North Carolina Chapel Hill
- Study coordinator: Berg, Jonathan S
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.