Marnie:
In some ways, I’ve been working on a new therapy for a rare neurodevelopmental disorder, Prader-Willi Syndrome (PWS), for my entire career. That’s over 20 years, so I have some bias and baggage!
As a venture principal scientist with WEHI Ventures, Nick brings a commercial mindset that’s completely different to mine and he comes to the project with fresh eyes. Having his expertise in our team makes us do better science.
There’s no effective treatment for PWS and it’s very medically complex, with symptoms like intellectual disability, low muscle tone and an insatiable appetite, often leading to obesity.
Our focus is on a protein called SMCHD1. We’re designing a drug that will target and destroy SMCHD1’s function. If we take away its mechanism, we can switch on some genes that should treat the cause of PWS.
Discovering SMCHD1 was an incredible career milestone. I discovered this protein myself, so it’s my ‘science baby’. When I started my scientific journey, I thought I’d be working at the basic end of science. I never imagined I’d be working on a world-first therapy to improve lives for hundreds of thousands of patients worldwide, and based on something that I discovered.
Nick’s intellectual capital is fast tracking us towards a treatment for PWS. He has a venture capital outlook, but also the scientific skills to converse on the most technical level.