Dr Frances (Frankie) Theunissen is excited to be heading to Kings College London (KCL) for a postdoctoral visiting appointment to expand her doctoral research on genetic markers for motor neurone disease (MND). 

While MND can be classified as familial (prior family history) or sporadic (no prior family history), there is considerable variability in how the disease progresses, such as the age of onset, duration, and where in the body the disease begins.  

“We believe an individual’s genetics can significantly impact this variability,” Dr Theunissen said. 

“By investigating the genetics of MND, we hope to improve clinical trial outcomes by grouping patients with a similar genetic mechanism. In this study, we will look at unique regions of the human genome that are difficult to investigate using conventional approaches.  

“There is growing evidence that these ‘difficult to access’ regions can hide complex disease mechanisms. In this study, we will investigate new genetic regions that may act as informative genetic markers for MND. This work is part of a FightMND grant awarded in 2021. 

“We will determine whether genetic markers can be used to improve the outcomes of MND clinical trials. We will assess newly discovered and existing genetic markers to determine if we can identify patients who responded to therapies so this information can be used for future testing. 

“I’m excited to be learning from and working with Professor Ammar Al-Chalabi, head of Basic and Clinical Neuroscience, Director King’s MND care and research, KCL, Dr Ahmad Al Khleifat and Dr Alfredo Iacoangeli from the Institute of Psychiatry, Psychology and Neuroscience, KCL.  

“I’m looking forward to working in an internationally renowned lab, strengthening my skills in new areas and sharing that knowledge when I return to Perth. 

“We do great science in Perth. The QEII Medical Centre precinct and our collaborations continue to grow which is promising. 

Professor Anthony Akkari, who heads our Motor Neurone Disease Genetics and Therapeutics Research group, has developed and enabled many collaborations, locally, nationally, and internationally. 

“I’m incredibly grateful to those who have supported my development. I wish to acknowledge the generous Giumelli family, and at the Perron Institute, Prof Akkari, Prof Frank Mastaglia (Senior Research Advisor), Steve Arnott (CEO), Dr Rebekah Puls (Director of Research) and Jim Murphy (head of Business Development, Fundraising and Marketing).” 

The Motor Neurone Disease Genetics and Therapeutics Research group is co-located at the Centre for Molecular Medicine and Innovative Therapeutics at Murdoch University and the Perron Institute.