Using advanced sequencing to clarify unclear genetic diagnoses
Official title: Utilizing long-read sequencing to resolve inconclusive diagnoses and uncertainty in genetic testing
Funded at Children's Hosp of Philadelphia · NIH-11063993 · Data updated 2026-11-12
This study is looking to help kids with unclear genetic conditions by using advanced testing methods to find answers that regular tests might miss, so they can better understand their health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | April 1, 2024 |
| Project end | January 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $445,000 |
| NIH project number | 5R01HG013355-02 |
| Project ID | NIH-11063993 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are pediatric patients with suspected Mendelian disorders who have received inconclusive genetic test results.
✕Less likely to help
Patients with well-defined genetic diagnoses or those whose conditions are not related to Mendelian disorders may not benefit from this research.
What this research studies
This research aims to improve the accuracy of genetic testing for patients, particularly children, who have inconclusive diagnoses related to Mendelian disorders. By employing long-read sequencing technology, the study seeks to resolve uncertainties that arise from current genetic testing methods, which often leave patients without clear answers. The approach involves analyzing genetic variants that are difficult to interpret with standard sequencing techniques, thereby enhancing the diagnostic yield for these patients. The research will focus on a cohort of pediatric patients with diverse genetic conditions, aiming to provide clearer insights into their genetic makeup.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses for patients with genetic disorders, potentially guiding better treatment options.
How similar studies have gone: Previous research has shown that advanced sequencing techniques can improve diagnostic outcomes, suggesting a promising potential for this novel approach.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Rajagopalan, Ramakrishnan — Children's Hosp of Philadelphia
- Study coordinator: Rajagopalan, Ramakrishnan
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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.