Beyond the Gene: Understanding the Ras Master Regulator Neurofibromin (NF1)

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene, leading to tumours, pain, and learning difficulties. The NF1 protein normally acts as a brake on cell growth signals, but how it functions inside cells remains unclear. This PhD project developed new biosensors to study NF1’s behaviour in real time, revealing how it moves and activates in different parts of the cell. These tools also helped uncover how disease-related mutations disrupt NF1’s function. Understanding these changes at the molecular level may lead to better, more targeted treatments for people living with NF1.