Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
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.
NDIS: Rhetoric versus Reality? This project aims to explore the realities of living with intellectual disability in Australia, and the impact of individualised funding arising from the introduction of the NDIS. The study will examine, within this era of disability reform, how people with intellectual disability are having their needs met, and the extent to which they are involved in decision-making about their lives. The study will be conducted over three years using a mixed method design. It wi ....NDIS: Rhetoric versus Reality? This project aims to explore the realities of living with intellectual disability in Australia, and the impact of individualised funding arising from the introduction of the NDIS. The study will examine, within this era of disability reform, how people with intellectual disability are having their needs met, and the extent to which they are involved in decision-making about their lives. The study will be conducted over three years using a mixed method design. It will specifically examine the relationship between self-directed individualised funding and its effect on personal well-being, self-esteem and voice, choice and control. People with intellectual disability will act as co-researchers within the study.Read moreRead less
Understanding the evolution of the alternation of generations in the land plant life cycle. This project will investigate the genetic basis and evolution of the land plant life cycle, in which both haploid and diploid phases consist of complex multicellular bodies. The project's findings, which will be made using two model laboratory plants, will be applicable to all plants and will help understand important processes such as pollen and seed production.
Young People with Disability & Young Carers: Opportunities & Contributions. This project aims to examine opportunities that young people with disability and young carers (aged 12-24) value and access, and contributions they make to families, communities and society. Using novel conceptual framing, qualitative research and large-scale survey data, the project expects to provide new knowledge on how policy can support access to valued opportunities and contributions for young people with disabilit ....Young People with Disability & Young Carers: Opportunities & Contributions. This project aims to examine opportunities that young people with disability and young carers (aged 12-24) value and access, and contributions they make to families, communities and society. Using novel conceptual framing, qualitative research and large-scale survey data, the project expects to provide new knowledge on how policy can support access to valued opportunities and contributions for young people with disability and young carers to support them to reach their full potential. Young people are centrally involved as co-researchers and the project is guided by a Policy Advisory Group. Benefits include evidence for a strengths-based policy approach to disability and care, longer-term economic gains and improved social cohesion.Read moreRead less
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
Using 3D printing to improve access to graphics by vision-impaired people. This project aims to investigate the possible benefits of 3D printing for production of accessible materials for vision-impaired people. Currently tactile graphics are used to provide severely vision-impaired adults and children with access to graphical content used in education and in orientation and mobility training. This project is expected to clarify the kinds of graphics for which 3D prints are better suited than ta ....Using 3D printing to improve access to graphics by vision-impaired people. This project aims to investigate the possible benefits of 3D printing for production of accessible materials for vision-impaired people. Currently tactile graphics are used to provide severely vision-impaired adults and children with access to graphical content used in education and in orientation and mobility training. This project is expected to clarify the kinds of graphics for which 3D prints are better suited than tactile graphics, and to build capacity within the national accessible format provision sector for the production and use of 3D prints. Benefits will include increased educational opportunities and quality of life for Australians with severe vision impairment, through improved access to graphic materials used in education and orientation and mobility training.
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Defining The Role Of A Novel Transcriptional Enhancer Element In Regulation Of Prox1 Expression And Endothelial Cell Identity.
Funder
National Health and Medical Research Council
Funding Amount
$706,909.00
Summary
The precise spatial and temporal control of gene expression is regulated by non-coding regions of the genome termed enhancers. Enhancers are crucial to program cell identity and have established roles in development and disease. We have identified a novel enhancer that we hypothesise controls the identity of valve endothelial cells by regulating expression of a master programmer of lymphatic endothelial cell identity, PROX1. Here we will investigate the role of this enhancer during development.
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.
Mid-Career Industry Fellowships - Grant ID: IM230100042
Funder
Australian Research Council
Funding Amount
$980,358.00
Summary
Unlocking the full reproductive potential for hybrid wheat breeding. Globally, wheat is cultivated as an inbred self-fertile crop with yield gains stagnating over the last decades. This contrasts with unabated yield gains and yield stability achieved for rice and corn through hybrid breeding and cross-pollination. Wheat hybrids hold potential for a 10-22% yield boost, but commercial deployment is restricted due to high seed production costs, a result of wheat’s floral architecture and poor outcr ....Unlocking the full reproductive potential for hybrid wheat breeding. Globally, wheat is cultivated as an inbred self-fertile crop with yield gains stagnating over the last decades. This contrasts with unabated yield gains and yield stability achieved for rice and corn through hybrid breeding and cross-pollination. Wheat hybrids hold potential for a 10-22% yield boost, but commercial deployment is restricted due to high seed production costs, a result of wheat’s floral architecture and poor outcrossing characteristics. This project aims to reduce costs by improving wheat’s female receptivity to airborne pollen, a major bottleneck to commercial realization of hybrids globally. Higher and more stable yields from wheat hybrids will ensure food security in the face of climate uncertainty and growing population.Read moreRead less