Determining Fundamental Mechanisms Compromised In Kir-linked Disease States
Funder
National Health and Medical Research Council
Funding Amount
$600,040.00
Summary
The human nervous system and organs are reliant on precisely controlled transmission of electrical currents through sodium and potassium channels. Their core functions are compromised when currents fail to switch on and off normally. Faulty potassium channels are implicated in diabetes, epilepsy and heart failure. This project re-examines the mechanisms controlling potassium channels, with a view to scientific and therapeutic discrimination between the different classes present in human cells.
Novel Fragile X Syndrome Prevalence Estimates In 100,000 Australian Newborns, Prognostic And Health-economic Outcomes: A Retrospective Newborn Screening Study
Funder
National Health and Medical Research Council
Funding Amount
$769,866.00
Summary
Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.
Preconception Predictors Of Health, Behaviour And Emotional Adjustment At Seven Years
Funder
National Health and Medical Research Council
Funding Amount
$1,170,830.00
Summary
An understanding of the importance of a healthy start to life has underpinned major health policies including Australia’s National Agenda for Early Childhood. The capacity of parents to provide that healthy start has received little study. The present project investigates the extent to which parental lifestyle, social and emotional adjustment prior to conception predictor emotional problems, disruptive behaviour and health in their children at seven years.
Rates Of Psychosis Onset In A High Risk Population
Funder
National Health and Medical Research Council
Funding Amount
$310,359.00
Summary
Older studies of people at risk of schizophrenia found that about 35% of them developed psychosis within 1 year. However the risk has decreased lately to as low as 10%. They may still become psychotic but take longer to do so, or they may not develop psychosis at all. We need to study this so that those not “at risk” are not needlessly treated. We will follow up “at risk” people and determine their 6 year outcome. We will do scans to see if there are any brain changes associated with psychosis.
Motor problems, ranging from clumsiness to cerebral palsy, are one of the most common adverse outcomes in children born early. This study will investigate the motor development of children born <30 weeks’ gestation compared with peers born at term from birth to 5 years. We will determine whether early clinical evaluations or neuroimaging in the newborn period can predict later motor impairment at 5 years to be able to identify those who will benefit most from early intervention.
Attention deficit hyperactivity disorde(ADHD) is the most prevalent mental disorder of childhood affecting around 7.5% of Australian school age children. The disorder is strongly genetic and causes significant impairments in academic functioning, family and peer relations with sufferers at increased risk for drug abuse. Identification and characterisation of rare mutations will enhance our knowledge of the neurobiology and advance the search for next generation drug treatments for the disorder.
Cellular Modelling Of Attention Deficit Hyperactivity Disorder (ADHD) Risk Genes
Funder
National Health and Medical Research Council
Funding Amount
$753,746.00
Summary
Attention deficit hyperactivity disorder is a prevalent behavioural disorder affecting 7.4% of Australian children and adolescents. It has a strong genetic component with high heritability estimates (75–90%) comparable to other serious mental illness such as autism and schizophrenia. Identification and functional characterization of the genetic causes of this disorder will enhance our knowledge of its neurobiology and revolutionise the drug treatment of the disorder.
Does The Treatment Of Anxiety In Children With ADHD Improve Outcomes? A Large-scale Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$854,630.00
Summary
Attention deficit hyperactivity disorder (ADHD) affects 5% of Australian children. Up to 64% of children with ADHD experience impairing anxiety, which is associated with higher levels of ADHD symptoms and poorer quality of life. This randomised controlled trial will determine whether treating anxiety in children with ADHD improves outcomes.
Improving Quality Of Life In Late Stage Bipolar Disorder: RCT Of A Novel Psychological Treatment
Funder
National Health and Medical Research Council
Funding Amount
$1,083,620.00
Summary
Hundreds of thousands of Australians have bipolar disorder and receive minimal benefit from existing drug and psychological treatments. ORBIT 2.0 is a new low-intensity online treatment using mindfulness strategies to improve quality of life in this poorly served ‘late stage’ group. Pilot testing suggests ORBIT is effective. This project will refine the intervention and is expected to confirm its clinical and cost effectiveness prior to international roll-out.
Characterization Of A Novel Epigenetic Boundary And Long Range Epigenetic Modifications Specific To FMR1 Expansion Carriers With Behavioural And Cognitive Disorders - Implications For Earlier Diagnosis And Treatment.
Funder
National Health and Medical Research Council
Funding Amount
$670,836.00
Summary
Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.