Aussie cellular genomics expertise targets PD


15 Oct 2020

Can you sum up the scope of this ambitious project?

There are no current treatments for the causes of Parkinson’s, in part because we have a poor understanding of how and why the disease develops. Our research will investigate how gene variants that can predispose an individual to Parkinson’s and the ‘second hit’ risk factors – the interplay of different brain cells and ageing – shape individual disease risk. We hope this new understanding will enable early diagnosis and prediction of therapeutic targets that could halt or reverse the disease, and identify subgroups of Parkinson’s that could be therapeutically meaningful.

What have you already discovered in this area?

Our research program has focused on understanding how genetic differences between people contribute to disease at the level of individual cells. To do so we have established a number of high-throughput, intersecting technologies, which we are looking forward to applying to Parkinson’s.

What particular skills or techniques does your team bring to this project?

At the Garvan-Weizmann Centre for Cellular Genomics, we have focused on the use of cellular genomics technology to address critical medical research questions. We’re one of the few global sites where state-of-the-art technologies, including the latest platforms in flow cytometry, microfluidics, genomics, high-performance computing and bioinformatics, are seamlessly integrated. In this research project, we will investigate Parkinson’s risk factors, using data from Parkinson’s patients, iPS cell technologies, cellular genomics approaches and sophisticated computational methods.

What aspect of this research excites you the most?

I’m most excited by the idea of connecting the dots between the different risk factors for Parkinson’s. We have a wealth of incredible technology now available to understand disease at an unprecedented level – this project is all about combining them to solve a long-standing scientific question of how Parkinson’s disease is triggered, and that has direct impacts for patients.

How long before this work might impact patient care?

This work is looking at Parkinson’s disease at the fundamental level, which makes it difficult to estimate a timeline for when our findings will lead to treatments. Nevertheless, there has been a huge focus on Parkinson’s disease by funding bodies and philanthropy in recent years, which will essentially shorten the time before a treatment or cure is available.

What’s your Holy Grail – the one thing you’d like to achieve in your research career?

My goal is to establish the technology that will allow us to completely understand disease at the genomic and cellular level. This will allow us to ask the paradigm-changing questions in medical research, and help us solve some of the most pressing health challenges.

What is your biggest research hurdle?

Funding to continue ambitious long-running programs of research.

Who has inspired you in work or life? 

I have a sense for myself that life is for living, and it is wasted if one does not use their time, effort, and skills to achieve something that is to the overall betterment of society. There are lots of ways for one to do that, but I have always been inspired by people who dedicate themselves to an area of life and either become a master of their discipline, or achieve something significant over the course of their life. I am equally inspired by artists, architects, and social activists, as I am scientists. It’s about making a difference beyond yourself.

There’s an app for that. What’s new on your phone?

I’ve just downloaded the Genopo app developed by my Garvan colleagues at the Kinghorn Centre for Clinical Genomics.

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