NF1 Medical Research with the Children’s Tumor Foundation

Researchers are making exciting progress on a groundbreaking blood test to help detect and monitor nerve tumors in people with neurofibromatosis type 1 (NF1), a genetic disorder that causes the growth of tumors on nerve tissue. This innovative test combines two powerful technologies — CAPP-seq and ultra-low pass whole genome sequencing (ULP-WGS) — to create a sensitive, non-invasive way to distinguish between non-malignant tumors and aggressive cancers like MPNST (malignant peripheral nerve sheath tumors). This tool could help doctors detect cancer earlier, monitor tumor changes over time, and personalize treatment for better outcomes.

The research team has already designed and tested the key components of the test, collected patient and animal model samples, and confirmed that their methodology can distinguish MPNST from non-malignant tumors. They are now finalizing data analysis and preparing key scientific publications. In the final phase of the project, the focus will be on improving the accuracy of the test and validating its use in real-world conditions, including treatment monitoring in mouse models. The ultimate goal is to make this test widely accessible and capable of improving care for people living with NF1.

Your donation can help support the next stage of this crucial work by funding laboratory testing, sample analysis, and the sharing of results with the global scientific and NF communities. By contributing, you help turn scientific discovery into practical tools that can save lives.