Improving The Phenotypic Severity Of Intellectual Disability And Seizures Caused By Expanded Polyalanine Tract Mutations In The ARX Homeobox Transcription Factor.
Funder
National Health and Medical Research Council
Funding Amount
$683,622.00
Summary
Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is a gene mutated in X chromosome-linked intellectual disability and seizures. Our study will comprehensively address the basis for improvements to disease outcomes following treatment with steriod horomones in mice modelling these mutations. We will also address the mechanism contributing to disturbed protein function due to these expanded polyalanine tract mutations.
Identification And Characterisation Of Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) And Related Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$376,640.00
Summary
Epilepsy affects approximately 2% of the population at some stage of their lives. We have recently identified two new genes involved in the development of a type of epilepsy known as ADNFLE. We aim to identify further epilepsy genes by sequencing ADNFLE patients who do not yet have identified mutations. We also aim to identify the genes interacting with the genes we have identified, increasing our understanding of the cellular networks involved in the development of epilepsy.
Understanding Health Service System Needs For People With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$1,216,389.00
Summary
The health of people with intellectual disability (ID) is one of the poorest of any group in Australia. People with ID experience higher rates of ill health, poor access to responsive health services and premature death. Our research will develop the first comprehensive profile of health, health service and medicines use and costs for people with ID, and will examine the impact of the National Disability Insurance Scheme (NDIS) on these metrics.
Characterising Quality Of Life And Its Determinants For Children With Intellectual Disability And Their Families
Funder
National Health and Medical Research Council
Funding Amount
$520,874.00
Summary
Approximately 2% of children are born with intellectual disability. They and their families often experience poor health and wellbeing. We will develop a measure of quality of life for affected children and then we will investigate how different factors affect both child and family quality of life. Our new measure will provide capacity to determine what treatments could improve the lives of affected children and their families.
Does Gastrostomy Improve The Lives Of Children With Severe Disability And Their Families?
Funder
National Health and Medical Research Council
Funding Amount
$645,101.00
Summary
Around 750 Australian children are born each year with severe intellectual disability. Problems may include feeding difficulties and frequent hospitalisations. Feeding via a gastrostomy tube into the stomach can be used. We will conduct a data linkage study in NSW and WA, and collect additional data in WA to investigate patterns of gastrostomy use and its safety, effectiveness and costs. Our findings will help the management of poor feeding in intellectual disability.
Do People With Disabilities Access Community-based Palliative Care Services And Does This Service Relieve Hospitals And Emergency Departments: A Study Of The Needs Of People With Intellectual Disability, Multiple Sclerosis And Schizophrenia.
Funder
National Health and Medical Research Council
Funding Amount
$369,208.00
Summary
Very little is know about health service needs and use by people with disabilities at the end of life. The study will help to address this gap. The three groups chosen are adults with an intellectual disability, multiple sclerosis, and/or schizophrenia. The study aims to explore the needs of these people and their carers in their last year of life including the need for palliative care and whether access to palliative care relieves some of the burden on hospital and emergency departments
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
Insights Into The Epitranscriptome: Linking RNA Methylation And Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$426,878.00
Summary
The string of nucleotides in an RNA molecule can contain the information to make proteins or to regulate diverse biological processes. Chemical modifications can be added to certain nucleotides that impact the regulation, structure or function of RNA. Recently, mutations in enzymes that modify RNA have been found in patients with intellectual disability. This project focuses on identifying and characterising specific RNA modification sites in brain that when disrupted cause mental retardation.
Investigating The Pathogenic Mechanisms Of Mutations In The ARX Homeobox Transcription Factor
Funder
National Health and Medical Research Council
Funding Amount
$596,222.00
Summary
Intellectual disability is frequent in the population with as many as 1 in every 50 people in the world directly affected. The cost to Australia of intellectual disability is estimated at $14 billion annually. ARX is one of the most frequent genes mutated in X chromosome linked intellectual disability. Our study will specifically address the functional impact of these mutations using cell models relevant to the brain to better understand the pathways and networks required for normal cognition.
Physical Activity Coaching For Adults With Physical Disabilities: A Pragmatic Randomised Controlled Trial.
Funder
National Health and Medical Research Council
Funding Amount
$1,371,185.00
Summary
People with impaired mobility can achieve substantial benefits from appropriate physical activities but face many barriers to being active so require targeted interventions and health professional support. This trial (n=600) will test the effectiveness and cost-effectiveness of an enhanced physical activity coaching intervention (home-visit from a physiotherapist, phone coaching, technology) with phone coaching alone and with no intervention.