Adaptive Evolution of BRCA1 in Ancestral Mammals. This project investigates adaptive evolution of BRCA1 in the early radiation of mammals. We will test the hypothesis that the evolution of mammary glands and X chromosome inactivation has resulted in modification of the BRCA1 protein sequence as it aquired new roles in these processes. We will also investigate the importance of these changes inducing compensatory changes in other parts of the protein.
ARC Centre of Excellence in Biotechnology and Development. The Centre will create a multidisciplinary research team focusing on the molecular mechanisms that drive the specification and differentiation of male germ cells. This research will improve our fundamental understanding of how complex regulatory networks control the expression of a complex phenotype, the spermatozoon. It will also create a platform of knowledge from which we can stimulate the growth of the Australian Biotechnology indust ....ARC Centre of Excellence in Biotechnology and Development. The Centre will create a multidisciplinary research team focusing on the molecular mechanisms that drive the specification and differentiation of male germ cells. This research will improve our fundamental understanding of how complex regulatory networks control the expression of a complex phenotype, the spermatozoon. It will also create a platform of knowledge from which we can stimulate the growth of the Australian Biotechnology industry, the protection of the Australian Environment and the well-being of the Australian people. Key issues for this Centre include testicular cancer, male infertility, contraception, pest animal control, environmental impacts on human health and gene pharming.Read moreRead less
Ocular Motility In Autism And Asperger S Disorder: Dissociation Of Motor Deficits.
Funder
National Health and Medical Research Council
Funding Amount
$131,235.00
Summary
We will use ocular motor technology to investigate motor dysfunction in autism and Asperger's disorder, to advance our understanding of the neurobiological bases of these disorders. This will help clarify whether neural networks are differentially disrupted in these disorders, as our previous clinical research suggests. This dissociation and the subsequent development of an ocular motor clincal screen may improve diagnosis, and potentially treatment, of these devastating conditions.
Discovering mechanisms of primary embryonic tissue migration through live cell imaging and novel genetic approaches. The studies proposed here will provide concepts and knowledge about the molecular basis of cell migration that will impact on diverse aspects of human health, such as the causes and nature of tumour metastasis and our understanding of the developmental basis of birth defects. In addition, understanding cell migration mechanisms will allow us to better predict or control the behav ....Discovering mechanisms of primary embryonic tissue migration through live cell imaging and novel genetic approaches. The studies proposed here will provide concepts and knowledge about the molecular basis of cell migration that will impact on diverse aspects of human health, such as the causes and nature of tumour metastasis and our understanding of the developmental basis of birth defects. In addition, understanding cell migration mechanisms will allow us to better predict or control the behaviour of therapeutic stem cells introduced into the body.Read moreRead less
Motor Functioning In Autism And Asperger's Disorder: Furthering Current Neurobehavioural And Clinical Definitions
Funder
National Health and Medical Research Council
Funding Amount
$354,932.00
Summary
While it is well known that autism and Asperger's disorder are associated with social, communicative, and behavioural symptoms, it is less well known that affected individuals also have considerable movement and coordination difficulties. For example, these children often have problems with hand writing, walking, hopping, skipping, catching, and running. These skills are very important for success at school; for example, if children are unable to participate in school sports they often feel isol ....While it is well known that autism and Asperger's disorder are associated with social, communicative, and behavioural symptoms, it is less well known that affected individuals also have considerable movement and coordination difficulties. For example, these children often have problems with hand writing, walking, hopping, skipping, catching, and running. These skills are very important for success at school; for example, if children are unable to participate in school sports they often feel isolated and rejected from the peer group. Also, hand writing problems have a significant impact on children's academic performance. Our previous research has suggested that there may be particular patterns of motor problems that characterise individuals with autism and Asperger's disorder. Our proposed research aims to use the kinds of 3D motion analysis technology used in the movie industry to capture exactly how people affected by these conditions move and respond to the environment. This study will enable us to highlight particular parts of the brain-motor circuitry that are affected by these disorders and will also enable us to more clearly distinguish how autism is different from Asperger's disorder. Ultimately, it is hoped that our motor investigations will lead to improved assessment and interventions for these disorders.Read moreRead less
Prevalence report by the Australian Advisory Board on Autism Spectrum Disorders (ASD) estimated that 1 child in every 160 children in the 6-12 year-old age group is affected by ASD. There is no cure for ASD and the causes are not understood. We propose that sex hormones may play a role in the development of these disorders. We will test this hypothesis using knockout and transgenic mouse models which have social interaction deficits and brain structure reminiscent of these disorders.
Health And Fertility Of Young Men Conceived Using Intra-cytoplasmic Sperm Injection
Funder
National Health and Medical Research Council
Funding Amount
$362,570.00
Summary
The injection of a single sperm into the egg (ICSI) has been the main IVF treatment for men with poor sperm quality since 1993 but is now often used for other types of infertility. Concern has been raised about the health of the children. We will approach >800 parents and their adult sons conceived using ICSI and will assess his general health and development, and fertility. This work will improve patient counselling and practice guidelines, and direct research into the safety of ICSI.
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
Genetic control of floral architecture. Different flowers have different designs, and so the design must ultimately be controlled by genes. We have identified a gene that keeps sepals separate, and promotes the initiation of petals. We think it does this by a novel growth suppression mechanism, and will now deduce its molecular and cellular basis. This will help maintain Australia's strength in fundamental plant biology. Also, by understanding how sepals and petals arise in a model laboratory sp ....Genetic control of floral architecture. Different flowers have different designs, and so the design must ultimately be controlled by genes. We have identified a gene that keeps sepals separate, and promotes the initiation of petals. We think it does this by a novel growth suppression mechanism, and will now deduce its molecular and cellular basis. This will help maintain Australia's strength in fundamental plant biology. Also, by understanding how sepals and petals arise in a model laboratory species, we can generalise for many species, including economic plants. Thus it may be possible to make designer crops through targeted genetic changes to their floral structure.Read moreRead less
Control of plant organ development by the PETAL LOSS gene of Arabidopsis. We have discovered a new gene in the model laboratory plant Arabidopsis thaliana that is involved in sepal and petal development. It encodes a transcription factor that apparently acts by repressing growth in the inter-sepal zone of flowers where petals arise. We now aim to determine how this growth suppression occurs, and whether it extends to leaves where the gene is also expressed. Control of the initiation and sculptur ....Control of plant organ development by the PETAL LOSS gene of Arabidopsis. We have discovered a new gene in the model laboratory plant Arabidopsis thaliana that is involved in sepal and petal development. It encodes a transcription factor that apparently acts by repressing growth in the inter-sepal zone of flowers where petals arise. We now aim to determine how this growth suppression occurs, and whether it extends to leaves where the gene is also expressed. Control of the initiation and sculpturing of plant organs by site-specific inhibition of growth is a newly discovered mechanism that may be useful in manipulating plant architecture.Read moreRead less