Evidence-based diagnostic criteria for pediatric genetic diseases
Official title: Comprehensive Pediatric Phenotyping for Evidence-Based Diagnosis in Genetic Disease
Funded at Children's Hosp of Philadelphia · NIH-11327359 · Data updated 2026-11-12
A clinician-scientist is testing clearer, data-driven criteria to diagnose rare genetic diseases in children, starting with Basal Cell Nevus Syndrome, to help families get faster, more accurate genetic testing.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $148,824 |
| NIH project number | 5K08HD111688-04 |
| Project ID | NIH-11327359 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children (0-21 years) with suspected or confirmed rare genetic conditions who are undergoing genetic testing or evaluation for diagnosis.
✕Less likely to help
Patients without suspected genetic conditions or those not undergoing diagnostic workups may not benefit directly.
What this research studies
This grant supports refining diagnostic rules for rare pediatric genetic conditions using real-world data and statistical methods. By building evidence-based criteria, it aims to improve sensitivity and reduce uncertain genetic interpretations, which can help families access appropriate testing, counseling, and care. The work will scale methods to thousands of rare diseases and involve clinical data from children to validate the approach. The project is led at Children’s Hospital of Philadelphia and focuses on translating findings into practical decision-support tools for clinicians.
Why it matters
Potential benefit: If successful, this could lead to faster and more accurate diagnoses for children with rare genetic diseases, guiding testing and treatment decisions.
How similar studies have gone: Previous work showed improved diagnostic sensitivity using evidence-based criteria, supporting potential for further gains with scaling.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Campbell, Ian Morgan — Children's Hosp of Philadelphia
- Study coordinator: Campbell, Ian Morgan
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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.