Defining The Changes In Cell Biology Caused By PRESENILIN Truncations Associated With Different Diseases
Funder
National Health and Medical Research Council
Funding Amount
$622,886.00
Summary
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be requir ....Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.Read moreRead less
Defining Epigenetic Predictors Of Long-term Outcomes Of Preterm Birth
Funder
National Health and Medical Research Council
Funding Amount
$409,408.00
Summary
On average, those born premature do worse health-wise than those born at term. However, some do worse than others. Our aim is to identify these people at birth to better help doctors and parents to closely monitor their health. For this, we will be “reading the diary of pregnancy” in the molecules added to chromosomes in blood during pregnancy in young adults with will characterised states of health. We will analyse DNA from blood that we will extract from stored heel prick spots.
Consequences Of Elevated Maternal Glucocorticoids For Early Childhood Renal Development And Function
Funder
National Health and Medical Research Council
Funding Amount
$605,190.00
Summary
A growing body of evidence links maternal stress, such as that precipitated by financial problems or relationship issues (marriage break-up, physical or emotional abuse), with preterm birth and low-birth weight, which in turn has been linked to increased risk of adult disease. Our studies examine how maternal stress impacts on kidney development in childhood and sets the child on the path to cardiovascular disease in adulthood.
Targeting A Novel Long Non-coding RNA That Is Dysregulated In Skeletal And Cardiac Muscle Disease
Funder
National Health and Medical Research Council
Funding Amount
$621,557.00
Summary
Recently, evidence suggests that cellular pathways that promote disease in skeletal and cardiac muscle, may be significantly influenced by a new class of molecules known as lncRNAs. Indeed a handful of studies have shown that therapies which target lncRNAs, can reduce disease severity. Thus, the identification of new lncRNAs that influence muscle health may present new therapeutic options to treat muscle diseases, where very few treatments currently exist. Here, we describe one such lncRNA.
Burden Of Rheumatic Heart Disease (RHD) And Impact Of Prevention Strategies: Comprehensive Evidence To Drive The RHD Endgame
Funder
National Health and Medical Research Council
Funding Amount
$960,655.00
Summary
Rheumatic heart disease is chronic damage to the heart valves caused by repeated bouts of acute rheumatic fever. Both are preventable, yet rates among Indigenous Australians are of the highest recorded. We propose to undertake the first multi-jurisdictional study of these conditions to determine trends in occurrence and evaluate the impact of existing interventions in Australia. Findings will be used to inform the development of a roadmap to remove RHD as a public health problem in Australia.
The Role Of EphA2 Signalling And Environmental Modifiers In Cataract.
Funder
National Health and Medical Research Council
Funding Amount
$591,547.00
Summary
In cataract the clear lens in the eye becomes opaque causing blindness. Cataract is very common in the elderly, but is rarely also seen in babies and children. In babies certain gene defects, and in the elderly the genes and environmental factors contribute to cataract. The EPHA2 gene causes cataract in both young and old people. This project aims to understand how EPHA2 and other related genes cause cataract in young and old people, to prevent, delay or improve its treatment in the future.
Management Of Breathlessness. Cognitive Behavioural Therapy For People With Chronic Obstructive Pulmonary Disease (BREVE RCT)
Funder
National Health and Medical Research Council
Funding Amount
$402,875.00
Summary
For people with chronic lung disease, breathlessness is common, distressing and difficult to relieve. Pulmonary rehabilitation programs have been demonstrated to improve exercise capacity and quality of life. This study will determine whether changing the way people think about the sensation of breathlessness while completing pulmonary rehabilitation, further reduces distress/anxiety and health service use and improve exercise capacity, disability related to breathlessness and quality of life.
Uncovering The Molecular Mechanisms Behind Charcot-Marie-Tooth Disease
Funder
National Health and Medical Research Council
Funding Amount
$320,967.00
Summary
Charcot-Marie-Tooth disease (or CMT) is one of the most common disorders of the nervous system, affecting the normal function of the limbs and causing lifelong disabilities. There is currently no cure for CMT. The aim of this research is to develop a new model of CMT, which will allow us to uncover novel information about how the disease develops. This research will provide a better understanding of the disease and therefore provide valuable insight for the future generation of therapeutics.
Gene Identification For Inherited Peripheral Neuropathies By Applying Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$605,058.00
Summary
Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to ....Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to prevent the death of motor and sensory nerves.Read moreRead less
Paget's Disease Of Bone Associated Sequestosome 1/p62 Mutations In Autophagy-mediated Processes And Bone Resorption
Funder
National Health and Medical Research Council
Funding Amount
$474,892.00
Summary
Paget’s disease of bone (PDB) is a common, chronic bone disorder characterized by focal lesions of increased bone degradation initiated by giant overactive osteoclasts. Subsequent bone formation is irregular, resulting in bones that are structurally weak. Genetic mutations are a common cause of PDB in Caucasians. Understanding the genetic mutations and their regulation on bone cells may lead to the discovery of a new drug target for the treatment of PDB.