Understanding variations in Neurofibromatosis type 1 to improve risk and care
Modeling neurofibromatosis-1 disease heterogeneity to optimize risk assessment and treatment
['FUNDING_OTHER'] · WASHINGTON UNIVERSITY · NIH-11327379
This project uses genetic, cellular, and computer models to learn why Neurofibromatosis type 1 causes different problems in different people and to guide better care for children and adults with NF1.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WASHINGTON UNIVERSITY (nih funded) |
| Locations | 1 site (SAINT LOUIS, UNITED STATES) |
| Trial ID | NIH-11327379 on ClinicalTrials.gov |
What this research studies
Researchers will combine genetic data, laboratory models (including CRISPR-modified cells and animal models), and computational bioinformatics to map how different NF1 mutations and cell interactions drive symptoms. The work will focus on brain-related problems in NF1, such as low-grade gliomas and neurodevelopmental issues in children and adults. Teams will test how different therapies affect tumor and brain cell behavior in models to understand variable treatment responses. The ultimate aim is to use these insights to personalize monitoring and therapy based on each person’s biology.
Who could benefit from this research
Good fit: Children and adults diagnosed with Neurofibromatosis type 1, especially those with or at risk for low-grade brain tumors or neurodevelopmental issues, would be most relevant to this work.
Not a fit: People without NF1 or patients seeking immediate clinical treatment changes should not expect direct or immediate benefit from this research.
Why it matters
Potential benefit: If successful, this work could help predict who with NF1 is most likely to develop tumors or learning problems and point to more effective, individualized treatments.
How similar studies have performed: Related efforts using genetics, model systems, and computational prediction have helped identify treatment targets in NF1 and led to successes with some targeted drugs (for example MEK inhibitors), but responses have been variable and incomplete.
Where this research is happening
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GUTMANN, DAVID H — WASHINGTON UNIVERSITY
- Study coordinator: GUTMANN, DAVID H
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.