Using DNA sequencing to screen newborns for treatable genetic disorders
Toward DNA Sequencing as a Primary Newborn Screen for Treatable Disorders not Amenable to Current Screening
This study is looking at how whole exome and whole genome sequencing can help find treatable genetic disorders in newborns, focusing on children in California who have metabolic conditions, to make sure we can better identify the genetic causes of these issues.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10441432 on NIH RePORTER |
What this research studies
This research investigates the use of whole exome sequencing (WES) and whole genome sequencing (WGS) as a new method for screening newborns for early-onset genetic disorders that can be treated. The study will analyze a diverse group of children diagnosed with inborn errors of metabolism in California, aiming to improve the accuracy of identifying genetic variants that cause these conditions. By developing a new framework for assessing the pathogenicity of genetic variants, the research seeks to enhance the detection of autosomal recessive diseases in newborns.
Who could benefit from this research
Good fit: Ideal candidates for this research are newborns, particularly those at risk for early-onset treatable recessively inherited conditions.
Not a fit: Patients with dominant genetic disorders or those who do not have recessive conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate and comprehensive newborn screening, allowing for earlier diagnosis and treatment of genetic disorders.
How similar studies have performed: Previous research has shown promise in using genetic sequencing for screening, but this approach is novel in its focus on improving detection for recessive conditions.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Risch, Neil J. — University of California, San Francisco
- Study coordinator: Risch, Neil 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.