Genetic variant review team for myeloid blood cancers
Official title: Myeloid Malignancy Variant Curation Expert Panel
Funded at Northwestern University · NIH-11124044 · Data updated 2026-11-12
Experts are reviewing inherited genetic changes that raise the risk of myeloid blood cancers so patients and families get clearer test results and care guidance.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | April 20, 2021 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $293,902 |
| NIH project number | 5U24CA258118-06 |
| Project ID | NIH-11124044 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with myeloid blood cancers or family members who have or are suspected to have inherited variants in genes like RUNX1, DDX41, GATA2, ANKRD26, ETV6, CEBPA, SAMD9/SAMD9L, or TERT/TERC.
✕Less likely to help
People without suspected inherited risk for myeloid cancers, those with unrelated cancer types, or those whose findings are purely somatic mutations are unlikely to benefit directly from this work.
What this research studies
This project brings together an expert panel that standardizes how inherited genetic variants linked to myeloid blood cancers are interpreted. The team develops and refines rules for classifying variants in genes such as RUNX1, DDX41, and GATA2 and is extending rules to ANKRD26, ETV6, CEBPA, SAMD9/SAMD9L, and TERT/TERC. They incorporate family segregation data, published studies, and input from patient organizations to improve classification accuracy. The curated variant interpretations are shared publicly so clinicians, laboratories, and patients worldwide can use them.
Why it matters
Potential benefit: If successful, patients could receive more accurate genetic test results, clearer diagnoses, and improved family risk counseling.
How similar studies have gone: Previous work by this panel produced internationally adopted curation rules for RUNX1, demonstrating that this expert-curation approach can succeed.
Where this research is happening
-
Northwestern University
Chicago, United States Active
Researchers
- Principal investigator: Godley, Lucy Ann — Northwestern University
- Study coordinator: Godley, Lucy Ann
Related research
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Myeloid Cancer Gene Variant Curation Expert Panel
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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.