ELP1 and SHH-type childhood medulloblastoma risk
Official title: Characterization of ELP1 as a novel SHH medulloblastoma predisposition gene
Funded at St. Jude Children's Research Hospital · NIH-11178023 · Data updated 2026-11-12
This work looks at whether inherited changes in the ELP1 gene increase the chance of SHH-subgroup medulloblastoma in children.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Jude Children's Research Hospital NIH-funded |
| Lab location | 1 site (Memphis, United States) |
| Project start | April 1, 2003 |
| Project end | August 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $450,558 |
| NIH project number | 5P01CA096832-20 |
| Project ID | NIH-11178023 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with SHH-subgroup medulloblastoma or families of a child diagnosed with SHH-MB—especially early-onset cases—are the most relevant candidates for related studies or genetic testing.
✕Less likely to help
Patients with non-SHH medulloblastoma subgroups (WNT, Group 3, Group 4) or tumors driven solely by other mechanisms are unlikely to receive direct benefit from ELP1-focused findings.
What this research studies
If your child has SHH-subgroup medulloblastoma, researchers are comparing DNA from over 1,000 affected children to find damaging inherited (germline) changes in the ELP1 gene. They use laboratory experiments, including CRISPR-based cell and animal models, to see how loss of ELP1 changes tumor growth and interacts with other cancer genes like PTCH1, PPM1D, and MDM4. Tumor sequencing and molecular profiling are used to connect genetic findings with tumor features and clinical behavior. The goal is to clarify inherited risk and the underlying biology so families and clinicians can consider better monitoring or targeted approaches in the future.
Why it matters
Potential benefit: If successful, this work could support genetic testing to identify children and family members at higher inherited risk and inform surveillance or tailored treatments.
How similar studies have gone: Germline sequencing has previously found other medulloblastoma predisposition genes, but implicating ELP1 as a predisposition factor is a newer finding now being validated with functional work.
Where this research is happening
-
St. Jude Children's Research Hospital
Memphis, United States Active
Researchers
- Principal investigator: Northcott, Paul — St. Jude Children's Research Hospital
- Study coordinator: Northcott, Paul
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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.