Improving diagnosis of rare genetic diseases in children
Official title: Comprehensive Pediatric Phenotyping for Evidence-Based Diagnosis in Genetic Disease
Funded at Children's Hosp of Philadelphia · NIH-11094052 · Data updated 2026-11-12
This study is working to improve how doctors diagnose over 7,000 rare genetic diseases in children by creating better guidelines that combine medical history, physical exams, and lab results, so kids can get the right treatment more easily.
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 | 2025 |
| Award (this year) | $148,824 |
| NIH project number | 5K08HD111688-03 |
| Project ID | NIH-11094052 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who are suspected of having rare genetic diseases.
✕Less likely to help
Patients with common genetic disorders or those outside the pediatric age range may not benefit from this research.
What this research studies
This research aims to enhance the diagnosis of over 7000 rare genetic diseases in children by developing evidence-based diagnostic criteria. It focuses on integrating various clinical elements such as medical history, physical exam findings, and laboratory results to create more reliable diagnostic tools. The study seeks to address the limitations of current diagnostic criteria, which often lack rigorous validation, potentially leading to misdiagnosis or missed opportunities for effective treatment. By utilizing statistical optimization and survey data, the research intends to improve the sensitivity of these criteria, particularly for younger patients.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses for children with rare genetic diseases, enabling timely and appropriate interventions.
How similar studies have gone: Previous research has shown promise in developing evidence-based diagnostic criteria for rare diseases, indicating that this approach could be effective.
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.