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.
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.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
Children of the new millennium: Using information and communication technologies for playing and learning in the information age. This research explores the development of young children's expertise with information and communication technologies from the preschool to the second year of school. It examines where young children in diverse socioeconomic areas use information and communication technologies, how many forms of it they use and to what extent technology relates to other forms of play ....Children of the new millennium: Using information and communication technologies for playing and learning in the information age. This research explores the development of young children's expertise with information and communication technologies from the preschool to the second year of school. It examines where young children in diverse socioeconomic areas use information and communication technologies, how many forms of it they use and to what extent technology relates to other forms of play and learning in literacy and numeracy. An assessment tool will be developed to explore how children's knowledge, understanding and use of technology changes over time. The research will inform policy and curriculum directions in the early years of education.Read moreRead less
Improving Maternal And Infant Outcomes: A Multicentre Randomised Controlled Trial Of Midwifery And Dental Intervention
Funder
National Health and Medical Research Council
Funding Amount
$457,724.00
Summary
Poor oral health during pregnancy can impact the health of the mother and baby. Yet, many expectant mothers are unaware of the implications of poor oral health. In Australia there is a lack of importance being placed on maternal oral health. The aim of this study is to determine the effectiveness of a new service which will promote maternal oral health through collaboration between midwives and dentists. We expect the new service will improve women's oral health, uptake of dental services and po ....Poor oral health during pregnancy can impact the health of the mother and baby. Yet, many expectant mothers are unaware of the implications of poor oral health. In Australia there is a lack of importance being placed on maternal oral health. The aim of this study is to determine the effectiveness of a new service which will promote maternal oral health through collaboration between midwives and dentists. We expect the new service will improve women's oral health, uptake of dental services and potentially improve pregnancy outcomes.Read moreRead less
ARC Centre of Excellence for the Digital Child. Our vision is for Australian children to be healthy, educated and connected. This Centre will integrate child health, education, and digital and social connectedness, innovating across disciplines to meet Australia’s ongoing challenges of supporting young children growing up in a rapidly changing digital age. The Centre’s world-leading team investigates children’s digital practices through three interconnected research programs supported by a longi ....ARC Centre of Excellence for the Digital Child. Our vision is for Australian children to be healthy, educated and connected. This Centre will integrate child health, education, and digital and social connectedness, innovating across disciplines to meet Australia’s ongoing challenges of supporting young children growing up in a rapidly changing digital age. The Centre’s world-leading team investigates children’s digital practices through three interconnected research programs supported by a longitudinal family cohort study and children’s technology laboratories. The Centre will address tensions in a contested field to inform government and non-government policy, technology innovation, and develop programs and guidelines for children, families, educators and technology developers. Read moreRead less