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
The Future In Our Hands: Screening For Preclinical Alzheimer's Disease By Analysing Hand Movements
Funder
National Health and Medical Research Council
Funding Amount
$899,782.00
Summary
Alzheimer's disease (AD) starts damaging the brain 10-20 years before memory problems begin. By the time of diagnosis, it is hard to treat because the damage is so severe. We need a way to detect AD much earlier. We will develop a simple new computer test to detect early signs of AD by recording and analysing hand movements. Then people can start prevention earlier and scientists can research better treatments to improve people's quality of life and reduce the number of people with dementia.
Cellular mechanisms that protect against copper-bound beta-amyloid. This project will investigate some of the brain’s own mechanisms for protecting itself against Alzheimer’s disease. Understanding these mechanisms will be important for developing future therapeutic strategies for treating Alzheimer’s disease.
Visualising neuron-glia interactions in the injured central nervous system. The adult brain and spinal cord recovery poorly from injury. Attempts to overcome this problem include methods to promote the intrinsic regenerative capacity of injured neurons, and modulating the inhibitory extracellular environment to become permissive to regeneration. The goal of this project is to investigate an endogenous regenerative mechanism in the injured brain. This project will use the latest, cutting-edge mic ....Visualising neuron-glia interactions in the injured central nervous system. The adult brain and spinal cord recovery poorly from injury. Attempts to overcome this problem include methods to promote the intrinsic regenerative capacity of injured neurons, and modulating the inhibitory extracellular environment to become permissive to regeneration. The goal of this project is to investigate an endogenous regenerative mechanism in the injured brain. This project will use the latest, cutting-edge microscopy techniques to visualise whether the endogenous astrocyte protein metallothionein can promote regeneration in the injured nervous system of living zebrafish. The successful outcomes of this project will provide significant insight into understanding how the brain responds to injury.Read moreRead less
The Role Of Excitotoxicity In Mediating Distal Axonal Degneration In ALS
Funder
National Health and Medical Research Council
Funding Amount
$392,952.00
Summary
Amyotrophic lateral sclerosis (ALS), the major cause of motor neuron disease, is a devastating diseasse for which there is no cure. There have been significant advances in understanding the pathology of ALS yet we still don’t know what causes the dying back of spinal motor neurons. We have new evidence that suggests that ALS may, in part, be caused by excitotoxcity - or over stimulation - of neurons in the spinal cord. We will follow this lead using a range of cutting edge experimental models.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE120100006
Funder
Australian Research Council
Funding Amount
$600,000.00
Summary
An adaptable and dedicated linear accelerator for medical radiation research. Leading radiation scientists developing innovative methods and devices for treating cancer patients will collaborate in future research using this highly adaptable linear accelerator for medical radiation research. Innovations in tumour targeting, better patient safety, new medical devices and improved cancer outcomes are expected.
From risk factor analysis to translation: multiple sclerosis and vitamin D deficiency. This research on multiple sclerosis will focus on its causes and lifestyle factors that affect it and will trial vitamin D supplementation as a treatment. Studies on vitamin D deficiency in healthy populations aim to develop new public health recommendations on sun exposure and vitamin D that balance risk of skin cancer against vitamin D deficiency.
A Genome-wide Association Scan To Identify Genetic Risk Factors For Sight Threatening Diabetic Retinopathy
Funder
National Health and Medical Research Council
Funding Amount
$982,203.00
Summary
Diabetic eye disease is an important complication of diabetes that can lead to blindness. Very little is known about how diabetes causes eye disease, but genetics is known to play a role. We aim to identify genes that contribute to eye disease in diabetes patients. We will compare genes between patients with diabetes with and without severe diabetic eye disease using cutting edge genomic technology. We hope to be able to better predict risk of blindness and to move towards novel treatments.
Special Research Initiatives - Grant ID: SR1101002
Funder
Australian Research Council
Funding Amount
$21,000,000.00
Summary
Stem Cells Australia. Despite progress in stem cell research, scientists do not understand how stem cells “decide” what to become. Stem Cells Australia will draw upon strengths within Australia’s premier stem cell research universities and institutes. This collaboration between leading bioengineering, nanotechnology, stem cell and advanced molecular analysis experts, will fast-track efforts to deliver a fundamental understanding of the mechanisms of stem cell regulation and differentiation, and ....Stem Cells Australia. Despite progress in stem cell research, scientists do not understand how stem cells “decide” what to become. Stem Cells Australia will draw upon strengths within Australia’s premier stem cell research universities and institutes. This collaboration between leading bioengineering, nanotechnology, stem cell and advanced molecular analysis experts, will fast-track efforts to deliver a fundamental understanding of the mechanisms of stem cell regulation and differentiation, and the ability to control and influence this process. Stem Cells Australia will deliver new methods for stem cell propagation and manipulation, new translational technologies for therapeutic applications, and will prepare Australia’s future stem cell scientific leaders.Read moreRead less
Analysing the protective role of platelets during malaria infection. Platelets protect the host during malarial infection. This project aims to study how platelets kill the malaria parasite by investigating the role of host molecules and their potential as novel antimalarial agents. The role of platelets in the pathogenesis of cerebral malaria syndrome will also be investigated.