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.
The efficacy of models for educational service delivery for students with autism spectrum disorders. This project will evaluate the effectiveness of two models of support (Satellite Class and Consultative model) for children with autism spectrum disorders (ASD) in regular schools. This research has significant potential to provide insight into the best ways of supporting children with ASD and improving their educational outcomes.
How schools make decisions about supporting students with disability. How schools make decisions about supporting students with disability. This project aims to examine how schools decide about adjustments for students with disability. More students with disability are enrolled in mainstream schools, and schools take decisions about resourcing to support them. Little is known about how schools make these decisions and data suggest an over-reliance on teacher assistants. This project will develop ....How schools make decisions about supporting students with disability. How schools make decisions about supporting students with disability. This project aims to examine how schools decide about adjustments for students with disability. More students with disability are enrolled in mainstream schools, and schools take decisions about resourcing to support them. Little is known about how schools make these decisions and data suggest an over-reliance on teacher assistants. This project will develop and evaluate a pilot professional learning package to support schools to make better decisions will be developed and evaluated. A better understanding of decision-making processes is expected to help schools make optimal, cost-effective decisions that personalise learning and support.Read moreRead less
Genome-wide Association Study (GWAS) For Juvenile-onset Myopia And Its Component Measures To Identify Molecular Pathways To Prevent Myopia
Funder
National Health and Medical Research Council
Funding Amount
$495,364.00
Summary
We will examine 2,000 young adults from the Western Australian Raine Cohort at the Lions Eye Institute / University of Western Australia. Ocular data will be collected relating to myopia (short-sightedness) and will be combined with extensive previous childhood and genetic research data collected on the Cohort, to investigate the genetic and environmental factors predisposing to myopia. This will assist in understanding the factors leading to myopia.
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.
Improved Support For Regional And Remote Paediatric Oncology Families: A Randomised Controlled Trial Of Videotelephony
Funder
National Health and Medical Research Council
Funding Amount
$304,843.00
Summary
Childhood cancer presents a major life stressor for the entire family. Significant changes to the everyday lives of families, practically, socially and emotionally cause major disruption. There is evidence that this disruption results in isolation and poor communication between family members, anxiety, low self-esteem and school problems for siblings and anxiety, post-traumatic stress symptoms and risk of depression for parents. Providing ongoing support to these families is an essential part of ....Childhood cancer presents a major life stressor for the entire family. Significant changes to the everyday lives of families, practically, socially and emotionally cause major disruption. There is evidence that this disruption results in isolation and poor communication between family members, anxiety, low self-esteem and school problems for siblings and anxiety, post-traumatic stress symptoms and risk of depression for parents. Providing ongoing support to these families is an essential part of care. The Royal Children's Hospital (RCH) Paediatric Oncology Service in Brisbane is the major tertiary paediatric referral centre for Queensland, northern New South Wales and the southwest Pacific. A multidisciplinary team of medical, nursing, and allied health professionals provides care and support to children with cancer, as well as their families. Each year around 100 newly diagnosed patients are cared for. Around 60% of the families cared for by the service live in regional and remote areas. There are a number of challenges which inhibit the equitable provision of specialist health services to these areas including availability of health care professionals and accessibility due to distance, time, cost and transport. For paediatric oncology families, opportunities to receive support are limited. One possible solution is the use of online support mechanisms, such as videotelephony, to facilitate the provision of much needed support to patients, parents, siblings and the family as a whole. The objective of this research is to see if videotelephony can be used to support regional and remote families of the Royal Children's Hospital Paediatric Oncology Service providing indizidualised communication, education, counselling and monitoring. This will present a new and innovative use of videophone technology as well as a new method for supporting regional and remote oncology patients and their families.Read moreRead less
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
Constructing futures: an investigation of the aspirations of young adults with an intellectual disability and their parents. This project aims to develop a better understanding of the aspirations for adult life held by young adults with an intellectual disability and their parents. Organisations that provide services to this vulnerable group will use the results to examine current, and guide future, service provision.
School non-attendance in students with intellectual disability. This project aims to develop a better understanding of school non-attendance among children and adolescents with intellectual disability. School non-attendance is a major societal problem – school outcomes are affected by high rates of school non-attendance – and a current national and international priority. In particular, school non-attendance in students with intellectual disability is a common but poorly understood problem. This ....School non-attendance in students with intellectual disability. This project aims to develop a better understanding of school non-attendance among children and adolescents with intellectual disability. School non-attendance is a major societal problem – school outcomes are affected by high rates of school non-attendance – and a current national and international priority. In particular, school non-attendance in students with intellectual disability is a common but poorly understood problem. This project aims to understand the types and rates of school non-attendance problems in students with intellectual disability and the factors that influence non-attendance. Improved understanding of the pathways to non-attendance would facilitate the development of specific interventions to provide much-needed improvements in attendance in this disadvantaged group.Read moreRead less
Sibling influence on development of children with autism spectrum disorder. This project aims to investigate how typically-developing siblings affect the development of children with autism spectrum disorder (ASD). ASD involves difficulties with language, executive functions and social understanding. For typically-developing children, growing up with siblings gives an advantage in these cognitive functions. Yet little is known about how having siblings’ impacts on cognitive development of childr ....Sibling influence on development of children with autism spectrum disorder. This project aims to investigate how typically-developing siblings affect the development of children with autism spectrum disorder (ASD). ASD involves difficulties with language, executive functions and social understanding. For typically-developing children, growing up with siblings gives an advantage in these cognitive functions. Yet little is known about how having siblings’ impacts on cognitive development of children with ASD. The project intends to longitudinally explore the mechanisms of sibling impact in families with and without a child with ASD. The outcomes will deepen understanding of child development, providing an evidence base for effective interventions to increase child competence and aiming ultimately to reduce the social costs of ASD.Read moreRead less