Understanding the effects of SMARCB1 gene changes in rare cancers
Functional consequences of SMARCB1 variants
This study is looking at how changes in a specific gene called SMARCB1 might affect rare cancers in kids and young adults, with the goal of finding out how these changes could help us develop better treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11050218 on NIH RePORTER |
What this research studies
This research investigates the role of genetic changes in the SMARCB1 gene, which is linked to rare and challenging cancers in children, adolescents, and young adults. By using advanced techniques to analyze these genetic variants, the research aims to uncover how specific mutations affect the function of SMARCB1 and its interactions with other proteins involved in cancer development. The study will enhance our understanding of these mutations and their potential impact on cancer behavior, which could lead to better treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research include children, adolescents, and young adults diagnosed with cancers associated with SMARCB1 mutations.
Not a fit: Patients with cancers not related to SMARCB1 or those outside the age range of 0-21 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and therapeutic options for patients with SMARCB1-related cancers.
How similar studies have performed: While SMARCB1 has been studied in the context of cancer, this specific approach using deep mutagenesis scanning is relatively novel and has not been extensively tested in prior research.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Hong, Andrew L — Emory University
- Study coordinator: Hong, Andrew L
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 below.