A Longitudinal Study Of Psychopathology In People With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$999,803.00
Summary
This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combina ....This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combination of questionnaire survey and in depth interviews of the young adults and their families or carers to track the course of their mental health. The study commenced in 1990 with nearly 1000 young people with ID aged 4-18 years and their progress has been reviewed every 2-3 years in over 75% of the original group. During the next 5 years we plan to follow their mental health during the critical stage of young adult life. During this time there is the greatest risk of mental illnesses such as depression and schizophrenia and the stresses of adjusting to new daily occupations, independent living or residential care and social contact away from the family. We will be able to study the specific emotional and behavioural problems faced by young adults with the main known causes of ID such as Down, Fragile X, Prader Willi and William Syndromes, as well as those who have autism. The great benefit of a long term follow up study is that it allows us to study the links between earlier family environmental, psychological and biological factors and subsequent mental health problems. We can also demonstrate the impact that mental illness in a young person with ID has on the family and parental mental health. The findings have implications for better diagnosis, improved care and management, early intervention and prevention of these common severe and under recognized mental health problems in this disadvantaged group of young Australians and their families and carers.Read moreRead less
I am a molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.
Discovery Early Career Researcher Award - Grant ID: DE230101174
Funder
Australian Research Council
Funding Amount
$443,154.00
Summary
Harnessing life-course transitions to optimise time-use behaviour habits. At every stage of life, how we use our time is one of the greatest determinants of our happiness, productivity, social wellbeing and quality of life. Time-use habits, for better or worse, are entrenched in daily routines that are difficult to break. This project aims to use existing population datasets to identify when during their life people are most likely to change their time-use habits, and to describe who may be at g ....Harnessing life-course transitions to optimise time-use behaviour habits. At every stage of life, how we use our time is one of the greatest determinants of our happiness, productivity, social wellbeing and quality of life. Time-use habits, for better or worse, are entrenched in daily routines that are difficult to break. This project aims to use existing population datasets to identify when during their life people are most likely to change their time-use habits, and to describe who may be at greatest risk of making unfavourable changes (e.g., replacing physical activity with sedentary time, not getting enough sleep). Expected outcomes include new analytical methods to understand time-use routines and new knowledge to inform future time-use improvement strategies to enable Australians to live their best life.Read moreRead less
Cell type-specific transgene expression to increase Fe content in cereal grains. The grains industry forms a vital part of the Australian economy and farm sector. Increased iron concentrations of wheat and other cereal grains would greatly increase their nutritional value for people worldwide, thereby increasing their market value and profitability for farmers. High iron wheat would also lower the production costs of many Australian wheat products by reducing or eliminating the need for iron for ....Cell type-specific transgene expression to increase Fe content in cereal grains. The grains industry forms a vital part of the Australian economy and farm sector. Increased iron concentrations of wheat and other cereal grains would greatly increase their nutritional value for people worldwide, thereby increasing their market value and profitability for farmers. High iron wheat would also lower the production costs of many Australian wheat products by reducing or eliminating the need for iron fortification of wheat flour. High iron cereals promote healthy development of young Australians and can improve preventative healthcare by reducing the incidence of iron deficiency anaemia and biochemical deficiency.Read moreRead less
Cerebral Palsy (CP) is a devastating, common developmental brain disorder once assumed to be due to lack of oxygen at birth. Using our unique Biobank with DNA and clinical data from families with a CP child, we are examining the genetic origins of CP and how genes and risk factors in pregnancy contribute. We will use computer modelling and testing in animals and brain cells, to understand causes of CP and devise predictive, preventative and therapeutic strategies.
Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain
Funder
National Health and Medical Research Council
Funding Amount
$17,652,824.00
Summary
The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
Histone Demethylase KDM6A Is A Novel Target For Treating Craniosynostosis In Children With Saethre-Chotzen Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$548,854.00
Summary
Children with Saethre-Chotzen syndrome exhibit premature fused coronal sutures, and other skull/ skeletal malformations. Surgical intervention is the only treatment option to ensure optimal cognitive and skeletal development. Our studies have identified a candidate molecular pathway that regulates bone formation by cranial bone cells from these patients. Targeting this key molecular regulator with chemical inhibitors will help prevent the premature fusion of cranial sutures.
Role of alanine aminotransferase in improved nitrogen use efficiency (NUE) in cereals. The use of nitrogen-based fertilisers by crop plants is poor where efficiencies (nitrogen taken up to that applied) is often less than 40%. Nitrogen not used is often lost to the environment through leaching and or volatilisation. Improving nitrogen use efficiency (NUE) in agriculture will decrease overall nitrogen fertiliser use and minimise its environmental footprint. This project will characterise a nov ....Role of alanine aminotransferase in improved nitrogen use efficiency (NUE) in cereals. The use of nitrogen-based fertilisers by crop plants is poor where efficiencies (nitrogen taken up to that applied) is often less than 40%. Nitrogen not used is often lost to the environment through leaching and or volatilisation. Improving nitrogen use efficiency (NUE) in agriculture will decrease overall nitrogen fertiliser use and minimise its environmental footprint. This project will characterise a novel NUE technology that when transferred to plants significantly improves NUE. We will define the phenotype at the molecular, biochemical and physiological levels to maximise its adoption to other agricultural crops such as wheat, barley and maize.Read moreRead less
New Insights into the Structure and Function of Pyruvate Carboxylase. Pyruvate carboxylase plays an essential roles in insulin secretion by pancreatic islets and in normal brain function, but excess expression of this enzyme in liver and adipose tissue is associated with diabetes and obesity.
Understanding the function of each structural feature in the reaction mechanism of an enzyme is essential to designing safe and effective pharmaceuticals that are required to modulate its activity.
Th ....New Insights into the Structure and Function of Pyruvate Carboxylase. Pyruvate carboxylase plays an essential roles in insulin secretion by pancreatic islets and in normal brain function, but excess expression of this enzyme in liver and adipose tissue is associated with diabetes and obesity.
Understanding the function of each structural feature in the reaction mechanism of an enzyme is essential to designing safe and effective pharmaceuticals that are required to modulate its activity.
This project, which will use cutting edge techniques in an experimental model, seeks to characterise this important enzyme's function so that better treatments can be developed in future for diabetes and obesity.
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Approach To Address Socioeconomic Inequality In Oral Health
Funder
National Health and Medical Research Council
Funding Amount
$773,033.00
Summary
This research program is expected to contribute to filling significant gaps in the understanding of factors determining the oral health of Australian preschool children. The inter-relationship between factors potentially important for child oral health and their effect on oral health will be evaluated. The findings will help to re-evaluate the effectiveness and safety of oral health preventive programs used for children and to explain inequality in oral health of children.