Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
Significance Of Low-level Mosaicism To Intellectual Disability In Paediatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$483,402.00
Summary
My vision for the next 4 years is to improve outcomes for children and their families with inherited disorders associated with intellectual disability (ID) and autism through earlier diagnosis and intervention. This is of great importance with annual costs of ID close $14.72 billion to the Australian health system, and missed or delayed diagnoses being a significant problem, as ID is found in 1.7% of births, where a specific cause is currently identified in less than half.
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.
An inability to resist a temptation or repeated failures of self-regulation can lead to 'impulsive' and 'compulsive' behaviours that relate to a host of personal and social problems (eg., excessive eating, gambling, and substance use). Despite this, very little research has studied the neural and psychological underpinnings of these behaviours. My research will take advantage of recent innovations and approaches to fill this void and have implications for diagnosis and treatment.
Impact Of A Sleep Intervention In Children With ADHD: A Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$384,230.00
Summary
Attention deficit hyperactivity disorder (ADHD) affects up to 7.5% of Australian children. Between 50 and 70% of parents also report sleep problems (eg night waking, insomnia) in their child with ADHD. Such sleep problems are associated with poorer child behaviour, concentration, and school attendance as well as poorer parent mental health and work attendance. This randomised controlled trial will determine whether treating sleep problems in children with ADHD can improve these outcomes.
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.
Building The Evidence Base For Prevention And Recovery Care Services
Funder
National Health and Medical Research Council
Funding Amount
$365,903.00
Summary
This project involves seven inter-related studies designed to evaluate the appropriateness, effectiveness and efficiency of Victoria's Prevention and Recovery Care Services (PARCS), which are residential services for people with severe mental disorders. The project represents a partnership between universities, PARCS providers, clinical services and the Victorian Government, and will actively engage service users and their carers and other experts
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.