- NF2-Related Schwannomatosis
Dive into the science of NF2 with a presentation from Dr. Vijaya Ramesh of Massachusetts General Hospital. Her research, supported by our community, explores how NF2-related tumors develop and investigates promising pathways for treatment. We’ve summarized the key points below, and you can access the full transcript of her talk.
A New Look at How NF2 Tumors Grow
Dr. Ramesh’s work focuses on understanding the NF2 gene and its protein, Merlin. In people with NF2, this protein is missing, which allows tumors like schwannomas and meningiomas to form. Her lab discovered that without Merlin, tumor cells don’t just multiply—they get bigger. This increase in cell size is a key characteristic of these benign tumors.
Finding a Way to Stop Tumor Growth
The research identified a specific communication channel in cells, known as the mTOR pathway, that becomes overactive when Merlin is absent, causing cells to grow. This discovery is exciting because there are existing drugs, like Rapamycin, that can block this pathway. In the lab, treating NF2-deficient cells with Rapamycin successfully reduced their size, suggesting a potential therapeutic strategy for slowing or shrinking tumors.
Your Support in Action
This vital research, including the development of animal models to test new treatments, was partially funded by NF Midwest. It’s a powerful example of how our community’s contributions help advance the science and bring us closer to effective therapies for neurofibromatosis.
Read the Full Transcript
For a deeper dive into the science and a look at the Q&A with Dr. Ramesh, download the complete transcript from the 2010 Neurofibromatosis Symposium.