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
A Parent Education And Skills Training Early Intervention For Children With Autism
Funder
National Health and Medical Research Council
Funding Amount
$305,674.00
Summary
Autism is a severely handicapping disorder adversely affecting social interaction, communication, and behaviour, interests and activities. Over the past 9 years our team has conducted a follow-up study of a large group of 111 Australian children and adolescents with autism. The young people have continued to have very high levels of emotional and behavioural disturbance and generally do not improve. Parents of children with autism are under significant amounts of stress; reporting high levels of ....Autism is a severely handicapping disorder adversely affecting social interaction, communication, and behaviour, interests and activities. Over the past 9 years our team has conducted a follow-up study of a large group of 111 Australian children and adolescents with autism. The young people have continued to have very high levels of emotional and behavioural disturbance and generally do not improve. Parents of children with autism are under significant amounts of stress; reporting high levels of disturbed family functioning and mental health problems. Although there is no cure, children benefit most when early help is provided (under 5 years). There are several promising interventions based on intensive behaviour and educational management, for example requiring 40 hours per week of therapist contact over 2 years. Such programs are costly and impractical as widely available treatment options. Training parents to understand and manage their child also shows promise. This study will evaluate the effectiveness of a parent skills training and education treatment program compared to supportive therapy, and to generally available community services. The therapists will follow a treatment manual that will ensure a consistent and replicable approach. The progress of the children with autism and their families will be reassessed immediately after treatment, and at 1 and 2 years post-treatment in order to ascertain immediate and long-term effects of the treatment. If treatment proves to be of use, we will have established a defined, cost efficient, practical and effective model of early treatment that can be easily taught to professionals and widely disseminated throughout early childhood services.Read moreRead less
Early Intervention For Anxiety And Phobic Disorders In Young Children With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$305,674.00
Summary
Children with intellectual disability (ID) are 2-3 times more likely to have behavioural and emotional disturbance, including anxiety and fears, than children of normal intellectual ability. Anxiety problems are a source of distress for the child, impair their ability to learn and are a cause of family burden and community cost. Therefore, effective interventions are urgently required. Research with non-disabled children has demonstrated the effectiveness of teaching parents to manage their chil ....Children with intellectual disability (ID) are 2-3 times more likely to have behavioural and emotional disturbance, including anxiety and fears, than children of normal intellectual ability. Anxiety problems are a source of distress for the child, impair their ability to learn and are a cause of family burden and community cost. Therefore, effective interventions are urgently required. Research with non-disabled children has demonstrated the effectiveness of teaching parents to manage their child's anxiety, however the effectiveness of this approach in children with ID has not yet been established. This project aims to compare the relative effectiveness of two intervention conditions compared to a waiting list group, for highly anxious children aged 4-7 years with ID. One intervention will teach parents to help their child deal with anxiety problems, and develop skills to overcome their own associated emotional upset and family and social problems. The other intervention will provide non-directive counselling and support to help the parents understand the nature and causes of ID, associated anxiety problems in the child, and parent and family stress. The long term outcome of these two interventions will be assessed by following the children and their families for two years. A manual of each treatment is produced. This project aims to provide evidence for a relatively inexpensive, feasible and effective early intervention program for young children with ID at risk for developing anxiety problems that can be easily taught to professionals and is acceptable to parents. Widespread use of this intervention has the potential to reduce the added burden and cost to families and the community of persistent severe anxiety in young people with ID.Read moreRead less
Implementation Of A New, Inexpensive And High-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry Test For Superior Detection Of Fragile X Syndrome In Targeted Diagnostics And Newborn Population Screening.
Funder
National Health and Medical Research Council
Funding Amount
$254,175.00
Summary
Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment int ....Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.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.
A Culturally Appropriate Approach To Improve Mental Health Outcomes In Sri Lanka And China: Mental Health First Aid
Funder
National Health and Medical Research Council
Funding Amount
$1,161,042.00
Summary
Mental Health First Aid (MHFA) training has an established track record in high-income countries of improving knowledge, attitudes and behaviours in relation to people with mental health problems. However, appropriateness of the course content and implementation models in middle-income countries is unknown. This project provides a unique opportunity to develop and pilot culturally appropriate MHFA training to improve population mental health in middle-income countries.