07 April 2022
Professor Sulev Kõks, head of Genetic Epidemiology Research at the Perron Institute and the Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University.
Professor Kõks is leading the WA TONiC study.
The most complex project I am currently working on is TONiC (Trajectories of Outcome in Neurological Conditions), which originated in the UK and is the largest study of its kind in the world. This is a consumer-driven project based on patient-reported quality of life outcome measures.
Currently TONiC involves people living with motor neurone disease (MND) and it has expanded to Parkinson’s disease. The study could potentially be extended to other neurological conditions. TONiC aims to identify the factors most affecting quality of life and how they could be modified for improved outcomes (including services), as well as explore the role of genetic and environmental factors associated with neurological diseases.
Could you tell us about your current research projects?
MND or Parkinson’s is not the same for every patient. Patients will progress at different rates, or experience specific symptoms that affect their day-to-day life more than others. These differences can change the way people cope with disease progression, as can a patient’s personal characteristics or social context.
TONiC is part of my broader research approach which is to identify new mechanisms for neurodegenerative diseases. My previous and other current research indicates that several chronic neurological diseases are caused by the dysregulation of regions of the genome that are difficult to characterise, including structural variants.
What progress has been made so far?
We have been recruiting patients for TONiC and we are still looking for more participants. We have gathered qualitative information such as how people feel about living with their diagnosed disease, their main concerns and potential ways to improve their quality of life including service and treatment options. Feedback from the initial questionnaire helped us adapt the version for those participating in the next phase. We have also applied our genomics expertise to identify genetic mutations associated with these diseases in the WA population. This information is very valuable for early diagnostics, and for potential preventative and therapeutic options.
Due to this research, we are developing a greater understanding of the subtype of MND and Parkinson’s this area is growing, and we understand that some genetic variants predict faster progression of dementia in Parkinson’s - see publication reference below. Both MND and Parkinson’s are complex diagnoses that involve diseases with several different subtypes.
Has this research helped to assist with diagnosis or predicting the onset?
Separate to this, and in collaboration with an international consortium on a lengthy longitudinal study, we have identified genetic markers that predict the development of dementia in Parkinson’s patients. For further information on this research, read the article: Genetic variant discovered for the progression of dementia in Parkinson's.
In addition, we have analysed patients and families to find genetic mutations underlying the diseases.
We are still looking for participants for the TONiC studies
Click on the links below for further information:
Or please visit the Clinical Trials area of the Perron Institute's website.
Professor Kõks is collaborating with Professor Anthony Akkari (head of Motor Neurone Disease Genetics and Therapeutics Research at Perron Institute and CMMIT, Murdoch University) and Professor Samar Aoun (Perron Institute Research Chair of Palliative Care at UWA).