Research

Professor Julie Stout leads a team of Melbourne-based researchers focusing on Huntington’s disease (HD) and other young onset neurodegenerative diseases. Our group has expertise in the design, development, and implementation of effective measurement tools to accurately capture cognitive and other clinical outcomes of HD. Several industry- and academically-sponsored clinical trials in HD are now underway examining cognition, and its interactions with sleep, apathy, depression, and gut health in HD. Effective measurement is essential to the success of clinical trials, and our group works alongside industry and clinical care providers to ultimately find ways to treat and cure HD.

Julie leads The Huntington’s Disease Network of Australia (HDNA), an Australian network of clinicians, researchers, and community members working together toward the best quality of life for people affected by HD.

Areas of research/projects:

Huntington’s Disease Network of Australia and the Map-HD Registry:
The HDNA and Map-HD Registry are multidisciplinary national initiatives led by Professor Julie Stout. The registry is a self-enrolment registry, launched in 2021, to collect data on everyone across Australia affected by HD, including people with and without the gene, and those in HD families. The registry aims to map the locations of people with HD in terms of urban, regional, and remote, examine their needs for clinical and support services, and support health technology assessment and government funding for HD. De-identified data on HD in Australia can be requested by contacting us at info@hdna.com.au. Visit the HDNA Website for more information.

Gut Brain Axis in HD:
Microbial imbalance in the gut, termed gut dysbiosis, influences behaviours that were previously thought to be entirely regulated by the brain, such as sleep, mood, thinking and memory. Gut dysbiosis has been associated with worse motor signs in Parkinson’s disease, pointing to a possible role of gut dysbiosis in disease progression. Some people with HD have gastrointestinal disturbances, and experience unintended weight loss, diarrhoea, and gastritis, which reduce their quality of life. Led by Dr Yifat Glikmann-Johnston, a Research Fellow in the lab, we are conducting a large study in premanifest HD, manifest HD, and healthy controls to establish the key differences in the gut microbiome and determine the relationship between gut health and clinical indicators of disease, mood, and cognition.

The Lived Experience and Biological Signature of Depression in HD: 
Depression is common in Huntington’s disease (HD), and has negative effects on day-to-day functioning, sleep, and thinking skills. Led by post-graduate clinical neuropsychology student Hiba Bilal, our lab is studying:

  1. The lived experience of depression in HD
  2. The day-to-day variability in mood in HD
  3. Neurochemical markers of depression in HD

This project aims to further the understanding of depression in HD, including its similarities and differences from depression in the neurotypical population, and to highlight aspects of depression that can be better targeted for psychosocial and pharmacological treatments.

Sleep Disturbance and Cognition in HD: 
Sleep problems are very common in HD, with up to 90% of people with HD self-reporting some form of sleep disturbance. How sleep disturbance relates to HD cognitive, motor, and psychiatric symptoms, however, is poorly understood, particularly in premanifest HD. Led by clinical neuropsychology PhD student Emily Fitzgerald, we are conducting a study to examine the relationship between sleep quality, thinking, and disease severity in people with premanifest HD. We are using sleep tracking devices, questionnaires, and cognitive assessments. The findings from our study inform interventions to improve cognitive symptoms by first improving sleep quality. In turn, this will improve the clinical management of HD and improve the overall quality of life for those with HD and their families.

Prevalence of HD in Australia:
The prevalence of HD in Australia is not well understood because there has never been a study that has applied the same methodology across states to estimate Australia-wide prevalence. Existing prevalence estimates are out of date. Dr Cory Wasser is leading a project aimed at determining HD prevalence across Australia by conducting data linkage across genetics, clinical, Medicare, PBS (Pharmaceutical Benefits Scheme), AIHW (Australian Institute of Health and Welfare), and other data sources, along with statistical modelling, to create an up-to-date picture of the prevalence of HD in Australia.

Honours Projects:

Every year we have new Honours students in the lab who take on new and exciting projects. This year’s projects include:

  • A qualitative study of the lived experience of depression in Huntington’s disease
  • A retrospective longitudinal study of weight and nutritional status of people with Huntington’s disease
  • A comparison of the digital adaption of the Symbol Digit Modalities Test to the traditional paper form
  • An examination of future episodic thinking ability in Huntington’s disease
  • The development of a questionnaire to assess the stressors experienced by young people from Huntington’s disease families
  • An assessment of the use of a mental health screening tool in a palliative care hospital setting
  • A test of an ambulatory sleep monitoring system for home use in Huntington’s disease