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
Improving Visual Outcomes In Patients With Diabetic Macular Oedema Undergoing Cataract Surgery: A Prospective Randomised Clinical Trial (the DiMECat Trial)
Funder
National Health and Medical Research Council
Funding Amount
$187,322.00
Summary
Cataract and diabetic retinopathy are the leading causes of visual loss in patients with diabetes, but unfortunately, cataract surgery in these patients often results in a loss of vision, rather than an improvement. The purpose of this study is to improve the visual outcomes in this group of patients, through the use of new, injected medicines that are given at the time of cataract surgery, thereby potentially changing current medical practice.
Centre Of Research Excellence In The Early Prevention Of Obesity In Childhood
Funder
National Health and Medical Research Council
Funding Amount
$2,483,243.00
Summary
One in five Australian children are already overweight or obese at age 5 years, by the time of school entry. Early childhood is a period when physical inactivity and poor eating habits become established and may persist life-long. We propose a Centre of Research Excellence in the Early Prevention of Obesity in Childhood. The Centre aims to reduce the prevalence of obesity and obesity-related behaviours in the first five years of life, and their future impact.
A Systematic Evaluation Of The Neurosurgical Application Of Peri-operative And Intra-operative MR Tractography In Different Paediatric Disease States
Funder
National Health and Medical Research Council
Funding Amount
$130,910.00
Summary
My research investigates changes in brain nerve fibre tracts/white matter in paediatric disease states and changes related to surgery by using nerve fibre tract imaging before, during and after surgery. It will also generate an imaging atlas to help understand white matter pathway development. It then serves as normative comparison to better understand aberrations in diseased neural pathways. The outcome will aid understanding in brain development, recovery and plasticity, and helps improve whit ....My research investigates changes in brain nerve fibre tracts/white matter in paediatric disease states and changes related to surgery by using nerve fibre tract imaging before, during and after surgery. It will also generate an imaging atlas to help understand white matter pathway development. It then serves as normative comparison to better understand aberrations in diseased neural pathways. The outcome will aid understanding in brain development, recovery and plasticity, and helps improve white matter lesion localisation.Read moreRead less
Improving The Long-term Outcomes Of The Australian And New Zealand Fontan Population
Funder
National Health and Medical Research Council
Funding Amount
$89,836.00
Summary
The Fontan procedure is the last of a series of operations offered to children born with hearts with a single pumping chamber. Without this procedure these children would die, however, with this procedure their long-term expectations are still uncertain. This study will investigate the long-term outcomes of the Australian and New Zealand Fontan population and how these outcomes can be improved.
Cancer Risks From Low-dose Ionising Radiation Following Diagnostic Medical Procedures
Funder
National Health and Medical Research Council
Funding Amount
$750,579.00
Summary
Our study investigates cancer risk following exposure to low doses of ionising radiation from medical procedures. Our first major paper linked over 800,000 CT exposures to cancer outcomes in a cohort of almost 11 million young Australians, and found that CT exposure predicted an increased incidence of leukaemia and most solid cancers. In our ongoing work we will incorporate nuclear medicine and other diagnostic x-rays, and estimate radiation dose for individual procedures and to specific organs.
The Role Of Infant Food Allergy In The Natural History And Burden Of Allergic Disease Across The Early Years: The HealthNuts Study
Funder
National Health and Medical Research Council
Funding Amount
$1,722,373.00
Summary
The HealthNuts study of 4600 infants is the world’s first comprehensive population-based study of food allergy with objective measurement of true food allergy and will enable us to understand better the natural history of allergic disorders including food allergy, asthma, eczema and allergic rhinitis and the interplay of risk factors for development of these conditions in the first 6 years of life. The study will have important implications for clinical guidelines and public health policy.
Defining The Impact Of Universal Iron Interventions In Young Children: A Randomized Controlled Trial In Rural Bangladesh
Funder
National Health and Medical Research Council
Funding Amount
$2,794,373.00
Summary
Although nearly half of the world's young children are anaemic, evidence regarding the best approaches to correct this problem are limited. New data even suggests that the conventional approaches (iron supplements, multiple micronutrient powders) may even be harmful. We will perform the definitive trial which will confirm the existence and magnitude of any benefit (and harm) from these interventions in young Bangladeshi children. This trial will inform global policy on anaemia control.
Centre Of Research Excellence In Eradicating Food Allergy: Prevention, Cure And Reducing Adverse Events
Funder
National Health and Medical Research Council
Funding Amount
$2,496,041.00
Summary
Australia has the highest reported rate of food allergy in the world. We aim to eradicate food allergy through improved prevention and cure, supported by evidence generated by our collaborative network of research. In addition, we aim to help prevent children with food allergy having anaphylaxis through improved public health policy and clinical pathways. As a second wave of the allergy epidemic, we are well positioned to turn back the tide of this newly emergent health threat to the public.