- NF2-Related Schwannomatosis
Understanding the science behind neurofibromatosis can feel overwhelming, but it’s also where we find the most hope. We’re excited to share insights from a presentation by Dr. Joseph Kissil, a leading NF2 researcher. He breaks down the complex process of developing new treatments and explains the vital role our community plays in making progress happen.
From Understanding the “Why” to Finding a Treatment
Dr. Kissil explains that for years, the focus of research has been on understanding the molecular events that cause NF2-related tumors to grow. Now, with a deeper understanding, scientists can pinpoint vulnerabilities in tumor cells and start developing drugs to target them specifically. It’s a shift from just studying the problem to actively creating a solution.
The “Gas Pedal” and the “Hand Brake” Analogy
To make this science easier to grasp, Dr. Kissil uses a simple analogy. Think of a protein group called PAK as the “gas pedal” in a Schwann cell—it makes the cell grow. The NF2 gene produces a protein called Merlin, which acts as the “hand brake,” keeping the PAK gas pedal in check. In people with NF2, the Merlin hand brake is missing, so the gas pedal is stuck on, leading to uncontrolled tumor growth.
Developing a Drug to Target the “Gas Pedal”
Dr. Kissil’s lab focused on finding a drug that could block the overactive PAK “gas pedal.” He shared the story of a promising compound called FRAX597, which showed it could significantly slow tumor growth in animal models. While this specific drug is still in development, the research has paved the way for a major pharmaceutical company to continue this important work, bringing a potential treatment one step closer to reality.
The Future of Research and How You Can Help
Progress doesn’t happen in a lab alone. Our community is a powerful partner in the search for a cure. Dr. Kissil highlighted a few key ways patients and families can accelerate research.
Read the Full Transcript
Read the entire transcript from Dr. Kissil’s presentation to learn more about the science behind these exciting developments.