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.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
An investigation of the cognitive processes underlying intrusive traumatic cognition. Intrusive unpleasant thoughts and memories occur in sufferers of anxiety and depression, and are common in normal individuals. Understanding the processes underlying intrusive cognition is critical, especially in the present world climate in which the Australian public is increasingly confronted with threats of terrorism and other negative world events. This research will have the direct benefit of leading to i ....An investigation of the cognitive processes underlying intrusive traumatic cognition. Intrusive unpleasant thoughts and memories occur in sufferers of anxiety and depression, and are common in normal individuals. Understanding the processes underlying intrusive cognition is critical, especially in the present world climate in which the Australian public is increasingly confronted with threats of terrorism and other negative world events. This research will have the direct benefit of leading to improved health of sufferers of anxiety and depression in the Australian community, and has the potential to increase normal individuals' ability to contribute to society by reducing intrusions that can interfere with work productivity, promote absenteeism, and have a negative impact on general wellbeing.Read moreRead less
Influences on farmer suicide in Queensland and New South Wales. Australian farmers have been identified as being at high-risk of suicide. This project will provide direction for targeted suicide prevention strategies by quantifying the individual and environmental factors that place farmers at higher risk of suicide, as well as the protective factors that may buffer against suicide and suicidal behaviours.
Children's memory for traumatic events. Many children are exposed to negative and distressing events. Understanding the processes underlying memories of such events is critical, especially in the present world climate in which the Australian public is increasingly confronted with threats of terrorism and other negative world events. This research will contribute directly to understanding why some children develop maladaptive responses to major life events, and others appear to adjust with few ps ....Children's memory for traumatic events. Many children are exposed to negative and distressing events. Understanding the processes underlying memories of such events is critical, especially in the present world climate in which the Australian public is increasingly confronted with threats of terrorism and other negative world events. This research will contribute directly to understanding why some children develop maladaptive responses to major life events, and others appear to adjust with few psychological difficulties. The research will pinpoint better management strategies for children affected by trauma by improved understanding of how traumatic memories are developed, as well as identifying critical variables that are amenable to change early after trauma exposure.Read moreRead less
Normative study of a checklist of emotional and behavioural disturbance in adults with intellectual disability. People with intellectual disability (ID) are three times more likely to suffer mental illness than the general community, making this a bigger problem than schizophrenia. They are a great burden to their carers and cost to the community but their mental health problems remain largely untreated. This study aims to conduct the largest and most comprehensive survey of the mental health ....Normative study of a checklist of emotional and behavioural disturbance in adults with intellectual disability. People with intellectual disability (ID) are three times more likely to suffer mental illness than the general community, making this a bigger problem than schizophrenia. They are a great burden to their carers and cost to the community but their mental health problems remain largely untreated. This study aims to conduct the largest and most comprehensive survey of the mental health of adults with ID that has been undertaken internationally to date. The population will cover the age span of late adolescence (16 years) through the transition to adult life then through to the elderly. The research will establish the prevalence and nature of mental illness and potential risk factors in a large representative population of adults with ID.Read moreRead less
A prospective study of the mental health of grandparents providing part-time child care for their preschool age grandchildren. This project addresses national research priorities and will identify the characteristics of a high-risk subgroup of Australian grandparents for whom the childcare burden has a deleterious impact on health and well being. Results will enable development of improved approaches to education and awareness in health professionals and the lay community about this subgroup, fa ....A prospective study of the mental health of grandparents providing part-time child care for their preschool age grandchildren. This project addresses national research priorities and will identify the characteristics of a high-risk subgroup of Australian grandparents for whom the childcare burden has a deleterious impact on health and well being. Results will enable development of improved approaches to education and awareness in health professionals and the lay community about this subgroup, facilitating early identification and intervention. The study will provide evidence-based guidance to policy makers about the most appropriate support services for grandparents involved in high levels of childcare, reducing their level of stress and improving the quality of the childcare they provide.
Read moreRead less
Discovery Indigenous Researchers Development - Grant ID: DI0775809
Funder
Australian Research Council
Funding Amount
$28,000.00
Summary
Patterns of Engagement: The Contexts, Frequency and Characteristics of Psychological Practice with Indigenous Clients. The extent and debilitating nature of Indigenous mental health problems has been widely documented. National and community benefits will derive from the development of strategies enabling psychologists to work more effectively with Indigenous clients to improve their psychological and social well-being and resolve mental health problems. The project will identify how psychologis ....Patterns of Engagement: The Contexts, Frequency and Characteristics of Psychological Practice with Indigenous Clients. The extent and debilitating nature of Indigenous mental health problems has been widely documented. National and community benefits will derive from the development of strategies enabling psychologists to work more effectively with Indigenous clients to improve their psychological and social well-being and resolve mental health problems. The project will identify how psychologists currently work with Indigenous clients, which will provide data to guide the development of effective strategies to bring about change.Read moreRead less