A vehicle to discover passion and purpose is how recent PhD graduate, Dr Frances (Frankie) Theunissen, describes her PhD journey. Expanding the investigation of genetic markers for motor neurone disease (MND) is her next focus. 

Based at the Perron Institute, Dr Theunissen is a postdoctoral researcher in the Motor Neurone Disease Genetics and Therapeutics Research group at the Institute and the Centre for Molecular Medicine and Innovative Therapeutics at Murdoch University. 

Her thesis is titled: ‘Characterization of genetic markers for sporadic amyotrophic lateral sclerosis’. 

Amyotrophic lateral sclerosis (ALS) is the most common form of MND, a devastating and fatal neurodegenerative condition. 

“Investigation of novel genetic markers could indicate people with increased risk of MND or potentially modify the severity of the disease for those affected,” Dr Theunissen said. 

“Better understanding of the genetic mechanisms underlying this complex disease will help us to design more targeted therapies.  

“Genetic markers may be valuable tools in future clinical trials with the potential to indicate which patients are more likely to respond to treatment. 

“There is an urgent need to improve the success rate of ALS clinical trials and my thesis set out to explore the first step towards identifying novel genetic markers with clinical utility.”  

Dr Theunissen’s supervisors were Professor Anthony Akkari, Professor Sue Fletcher AO, Professor Steve Wilton AO, Associate Professor Stuart Hodgetts, Associate Professor Ryan Anderton and Dr Loren Flynn. 

During her PhD, Dr Theunissen published ten publications; five first author, five co-author, and one international patent. She also won the Perron Institute best student paper competition in 2021. 

“I would like to thank my family, friends, staff and students at the Perron Institute, my academic supervisors, and scientific mentors for making my PhD milestone possible.  

“My next goal is to develop new streams of MND research focusing on the co-development of genetic markers and targeted therapeutics. I’m excited about forming new collaborative networks and working with other experts around the world to try and make a positive difference for MND patients. 

“I’m currently co-leading a FightMND structural variant grant project. As part of this, I will travel to King’s College London to be trained by world leaders in MND genetics, including Professor Ammar Al-Chalabi and his team.  

“I have also submitted fellowship applications to expand the research I conducted during my PhD.” 

Congratulations on all your achievements, Dr Theunissen. 

Photo caption: L-R Dr Flynn, Dr Theunissen and Prof Akkari.