Meet Ella McDonald, a PhD Candidate at Flinders University in Adelaide and the recipient of a Sanfilippo Children's Foundation PhD top-up scholarship. Ella works in the Bardy lab at the South Australian Health and Medical Research Institute, where she uses a ‘Brain in a Dish’ model of Sanfilippo to test drugs that may improve quality of life for people affected by Sanfilippo and their families.
We are very grateful to all the researchers around the world, like Ella, who are working tirelessly to solve Sanfilippo, as well as the many donors and supporters who help us to fund their work!
Q&A
1. Why did you pursue science?
Coming out of high school, I knew I wanted a career in health and medicine. I chose a neuroscience elective in my first year of university, and it was by far one of the most challenging courses I’ve ever done. It led to many mini breakdowns and tears, but when it all clicked, I loved it. I also worked in an office throughout my undergraduate degree and quickly realised that I wouldn’t enjoy a typical 9-5. As anyone in science knows, no two days are the same, and you’re constantly facing new challenges to overcome. Science and research offered me an opportunity to explore the unknown and improve people’s lives.
2. What got you interested in Sanfilippo research?
In all honesty, I’d never heard of Sanfilippo until I joined the Bardy Lab. This was extremely fascinating to me, having just completed courses on neurological disease and pathologies during my undergraduate degree. When talking to my family and friends, I couldn’t understand how no one had heard of it before, especially considering there is such a strong focus on dementias in the older population – everyone knows of Alzheimer’s and Parkinson’s Disease. So little is known about Sanfilippo, I was immediately hooked and wanted to do everything I could to help understand this devastating disease.
3. How would you describe your research to a non-scientist?
I’ve had a fair bit of practice with this, trying to explain what I do to my grandparents. This is what I tell them:
Our team takes skin cells from healthy donors and children with Sanfilippo and reverse engineer them into stem cells. Using these stem cells, we can generate any type of cell or tissue we’re interested in. For my research, we specifically look at brain tissue (neurons). We end up with live human brain tissue that we can compare between healthy donors and children with Sanfilippo in a petri dish. This is why my project is called Brain in a Dish!
In recent years, we’ve identified various differences between the Sanfilippo and healthy donor neurons. We’re now at a point where we can start to safely test multiple new or repurposed drugs on the Sanfilippo brain in a dish, to see if they can effectively slow or reverse these differences without putting anyone at risk.
4. How could the findings of your PhD project impact the field?
The identification of symptomatic or disease-altering treatments for Sanfilippo would be life-changing for both diagnosed children and their families. While these treatment options alone are unlikely to be a cure, they could help improve distressing symptoms and/or slow disease progression to substantially improve the children’s quality of life.
Poor clinical translation remains a major hurdle in the drug discovery process. My project will allow us to validate the drug screening platform and develop a framework applicable to other forms of childhood-onset dementia and neurological diseases. While my PhD focuses specifically on Sanfilippo the applications extend far beyond. For example, this screening platform could be applied to a wide range of neurodegenerative conditions to accelerate drug discovery, improve clinical trial outcomes and help further elucidate underlying disease mechanisms. This is the first step in improving bench-to-bedside translation and broadening our understanding of complex neurological disorders.
5. When you’re not busy with research, what do you like to do?
My favourite thing to do outside of the lab is to spend time with my family and friends! I’m always in the mood for good food, so this usually involves going out for dinner, long Sunday lunches or movie nights. I’m a massive Formula One fan! I try to watch as many Grands Prix as possible and support my favourite team, Ferrari (red cars go faster). The early morning/late night races happen to fit around my lab schedule quite well. I’ve also been getting into football recently, so I’ve been enjoying watching my partner’s football games and the AFL (Go Adelaide Crows) - I still don’t understand all the rules though.
