RELATED PROJECTS
The Genomics of Intellectual Disability
Neurocognitive disorders are one of the largest unmet challenges in healthcare, due to their lifelong nature, high management costs, prevalence and frequent recurrence within families. The objectives of this research will be to enhance fundamental knowledge about the genetic basis of neurocognition and the investigation of targeted treatment strategies in relation to biological pathways. Non-coding and copy number variation mechanisms will be explored along, with a study on variable expressivity and non-penetrance in specific syndromes. It will apply genomic technologies to a cohort of at least 200 families with neurocognitive disorders, develop bioinformatics tools and implement functional studies using induced pluripotent stem cells and CRISPR/Cas9 to explore the heterogeneity underlying the genetic aetiology of intellectual disability. The outcomes of this research could enable improvements in clinical phenotyping, genomic diagnosis, common data analysis and reporting standards.
Neuroimaging biomarkers of bipolar disorder risk
Bipolar Disorder is a highly heritable mood disorder characterised by oscillating periods of depression and mania. Previous research has established that this illness is accompanied by widespread changes in brain structure and function. However, the causes of these changes remain unknown. Are these changes a result of the illness process? Are they a product of the medications used to manage Bipolar symptoms? Do they represent the underlying cause of the clinical symptoms observed in this disorder? The Bipolar “Kids and Sibs” Study attempts to answer these questions by studying the young first-degree relatives of Bipolar Disorder patients, who are at increased risk of developing Bipolar Disorder or another related mental illness in the future themselves. As these young “at-risk” individuals have not received a Bipolar diagnosis and are free from medication, they provide a unique opportunity to examine brain differences that relate to both risk for and resilience to Bipolar Disorder.
The aim of this study is to identify neuroimaging biomarkers that may differentiate individuals who will ultimately go on to develop Bipolar Disorder or another mental illness, from individuals who are resilient and will remain well. This may assist in identifying those who are most at risk before they become unwell, and allow for interventions that prevent progression to illness or minimise the impact of this condition.
Healthy and working life expectancies in an ageing Australia
Dr Kim Kiely (Lead Investigator) and Professor Kaarin Anstey (Co-investigator)
Australians are living longer and expected to work for longer than ever before. It is critical that additional years of life are at least matched by the increase in the years lived in good health, and that gains in healthy ageing are experienced across all sectors of society. There is also a great need to balance older adults’ capacity and opportunity to work with societal pressures to delay retirement.
The objective of this three-year project is to better understand individual and societal determinants that underlie variation in healthy ageing. We will identify characteristics that are tied to the years that older adults are able to engage in productive activities and live independently in good health. To achieve this, advanced health expectancy estimation methods are being used to analyse newly available mortality records that have been linked to national longitudinal survey data. These analyses will produce new, refined, estimates for Australia of ‘healthy life expectancy’ with ‘working life expectancy’. We will examine how these differ across sociodemographic strata, change over time, and compare internationally.
The project is funded by an Australian Research Council (ARC) Discovery Project (DP190100459).