Shared genetic causes of childhood cancer and birth defects
Official title: U24-Uncovering the Shared Genetic Origins of Childhood Cancer and Structural Birth Defects Through Enhanced Data Integration and Analysis with the CFDE Data Distillery Knowledge Graph.
Funded at Children's Hosp of Philadelphia · NIH-11195033 · Data updated 2026-11-12
We are combining genetic data from children with cancers and structural birth defects to look for common genetic signals that might explain why they happen together.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 19, 2024 |
| Project end | August 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $2,919,189 |
| NIH project number | 4U24OD038422-02 |
| Project ID | NIH-11195033 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children who have (or had) both a structural birth defect and a childhood cancer, and families who contributed genetic data to Kids First or similar cohorts, are the most relevant candidates.
✕Less likely to help
Patients without genetic data in the included cohorts, or those with conditions outside the specific birth defect–cancer pairings, are unlikely to get direct benefit from this project.
What this research studies
Researchers will gather and merge germline and tumor genetic data from children with structural birth defects and childhood cancers into a single, searchable knowledge graph. They will expand the CFDE Data Distillery Knowledge Graph to hold more genomic data types and to tag relationships by strength of evidence so patterns can be found using machine learning. The team will use existing datasets such as Kids First and the NCI Molecular Targets Project, focusing on links like congenital heart defects with neuroblastoma or blood cancers, and brain birth defects with brain tumors. No new clinic visits are planned because the project analyzes already-collected genetic and clinical data to search for shared genetic signals.
Why it matters
Potential benefit: If successful, this could reveal shared genetic causes that improve diagnosis, risk information, and guide future prevention or treatment research for affected children.
How similar studies have gone: The CFDE Data Distillery Knowledge Graph has been built and used successfully on other datasets, but applying it specifically to link childhood cancers and structural birth defects is a newer use.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Taylor, Deanne Marie — Children's Hosp of Philadelphia
- Study coordinator: Taylor, Deanne Marie
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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.