Dr Leonzino's journey with VPS13 proteins began during her postdoctoral training at Yale University in Pietro De Camilli's lab, where she contributed to groundbreaking discoveries showing that VPS13 proteins act as lipid transfer proteins at specific points where cell membranes meet. She helped identify their binding partners and clarified how different human VPS13 family members connect to distinct cellular functions. 

Now leading her own research group at the Institute of Neuroscience of the CNR at Humanitas, Dr Leonzino currently focuses on VPS13D. Because completely removing this protein is lethal for cells, her team developed innovative models that allow them to study its function in living cells and human neurons. These models are providing crucial insights into how VPS13D works, why its loss causes disease, and how this knowledge may guide future therapies. 

In her prize lecture, Dr Leonzino traced the journey from molecular structure to patient impact, showing how VPS13D helps maintain healthy mitochondria, regulates the cell's recycling system, and shapes neuronal development. Using patient-derived stem cells carrying VPS13D mutations, her team observed reduced neurite growth and altered electrical activity, offering clues to the movement and developmental symptoms seen in VPS13D-related disorders. 

In a special moment during the Lausanne symposium, all three prize winners to date, Dr Leonzino alongside 2021 winner Dr Jae-Sook Park  and 2023 winner Dr Kevin Peikert, shared the stage together to receive their certificates in person. 

The Glenn Irvine Prize honours the memory of our charity's co-founder and celebrates young scientists whose research advances understanding of VPS13 and XK diseases. The prize continues thanks to the generous contribution from Carl and Betty Pforzheimer, whose vision ensures we can recognise and support exceptional researchers for many years to come. 

We're grateful and proud to be able to support the future research and look forward to seeing where it leads!