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I am a molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.
The Role Of Respiratory And Upper Airway Neural Control In Sleep Disordered Breathing
Funder
National Health and Medical Research Council
Funding Amount
$346,018.00
Summary
Obstructive Sleep Apnea (OSA) is a disorder associated with snoring. It affects 4% of adult men and causes excessive daytime sleepiness leading to increased accidents, high blood pressure and premature cardiovascular disease eg. heart attacks and strokes. Patients with OSA obstruct the floppy portion of the upper airway (UA) during sleep and consequently experience frequent episodes of oxygen deprivation as well as sleep fragmentation. OSA is at least 2-3 times more common in men than women. Whi ....Obstructive Sleep Apnea (OSA) is a disorder associated with snoring. It affects 4% of adult men and causes excessive daytime sleepiness leading to increased accidents, high blood pressure and premature cardiovascular disease eg. heart attacks and strokes. Patients with OSA obstruct the floppy portion of the upper airway (UA) during sleep and consequently experience frequent episodes of oxygen deprivation as well as sleep fragmentation. OSA is at least 2-3 times more common in men than women. While OSA patients seem, on average, to have smaller upper airways than normal subjects, the cause of OSA cannot be attributed to this factor alone. For example, a small UA cannot explain the male tendency for OSA. Abnormalities in breathing control or the control of upper airway muscles that normally hold the airway open might also be important in OSA. Men have previously been shown to have a greater increase in UA resistance during sleep than women, consistent with the idea that a gender difference in UA muscle control partly explains why more men than women have OSA. We aim to investigate how changes in breathing and UA dilator muscle control might lead to unstable patterns of breathing and to OSA. We propose that protective UA muscle reflexes are reduced during sleep more in men than women, and are reduced by low blood oxygen levels and alcohol (a known aggravator of sleep apnea). We further propose that low blood oxygen levels not only result from OSA but may also aggravate OSA by preferentially reducing the activity of UA dilating muscles, by making breathing patterns overall less stable and by depressing the ability of subjects to arouse from sleep to an airway blockage. We believe that this tendency to decrease UA activity may be exaggerated in OSA patients. We also propose that men are more vulnerable to the deleterious effects of low oxygen than women. We will also examine if men and snorers have exaggerated breathing responses on arousal from sleep.Read moreRead less
The Role Of Arousal And Diaphragm Displacement In The Pathogenesis Of Obstructive Sleep Apnoea
Funder
National Health and Medical Research Council
Funding Amount
$410,875.00
Summary
Obstructive sleep apnea (OSA) affects 4% of men and causes excessive daytime sleepiness leading to increased accidents, high blood pressure and premature cardiovascular disease e.g. heart attacks and strokes. OSA is characterized by repetitive obstructions of the floppy portion of the throat during sleep with adverse effects on oxygen levels and sleep quality. OSA is strongly associated with obesity and is 2-3 times more common in men than women. How obesity and male gender predispose to OSA is ....Obstructive sleep apnea (OSA) affects 4% of men and causes excessive daytime sleepiness leading to increased accidents, high blood pressure and premature cardiovascular disease e.g. heart attacks and strokes. OSA is characterized by repetitive obstructions of the floppy portion of the throat during sleep with adverse effects on oxygen levels and sleep quality. OSA is strongly associated with obesity and is 2-3 times more common in men than women. How obesity and male gender predispose to OSA is not known. We will investigate two factors that we believe are most likely involved in causing and explaining this gender difference in OSA. We will examine if breathing responses with brief awakening are sufficient to promote OSA patterns of breathing in snorers and if they are greater in male than female OSA patients. We have already shown that healthy men have greater breathing response to arousal compared to women. These brief arousals occur hundreds of times a night in OSA patients, and over-breathing on arousal may increase the probability of upper airway obstruction on falling back to sleep. We will also investigate why even healthy men show greater breathing responses compared to women. Men tend to accumulate fat centrally, particularly in the abdomen, whereas in women fat tends to be distributed more to the hips and thighs. This could be very important in OSA because downward pull exerted on the upper airway by the diaphragm is likely to be reduced in people with more abdominal obesity. This mechanisms has not yet been studied in humans. We will therefore investigate if increased forces placed on the diaphragm during sleep make the upper airway more prone to collapse. We will also investigate these effects during sleep onset, when there may well be important changes in diaphragm position as muscles relax.Read moreRead less
Mechanisms Of Premature Cranial Fusion: Role Of Retinol Binding Protein 4 In Osteogenesis And Suture Fusion
Funder
National Health and Medical Research Council
Funding Amount
$555,855.00
Summary
Craniosynostosis is a condition where the skull bones fuse prematurely, affecting skull shape, vision and cognition. It occurs in 1 in 2,500 births. The only treatment is surgery, which is life-threatening, costly and may need to be repeated. By studying how fusion happens in this project we may be able to devise therapies to minimize the risks and need for re-operation. Here, we hope to show that modification of a single substance in the skull of mouse models can prevent premature bone fusion.
Special Research Initiatives - Grant ID: SR0354622
Funder
Australian Research Council
Funding Amount
$20,000.00
Summary
Genes and Environment in Development. Interactions between the early environment and the genetic regulatory program of the early embryo have major consequences for the development of individuals. The aim of this Network is to harness the resources of leading researchers from the previously distinct disciplines of developmental biology and developmental physiology to better understand developmental regulatory networks and how environmental factors impinge on them. The formation of such a Network ....Genes and Environment in Development. Interactions between the early environment and the genetic regulatory program of the early embryo have major consequences for the development of individuals. The aim of this Network is to harness the resources of leading researchers from the previously distinct disciplines of developmental biology and developmental physiology to better understand developmental regulatory networks and how environmental factors impinge on them. The formation of such a Network is unique, timely and strategic in that it will generate new insights into the mechanisms by which events in early life determine the risk of adverse outcomes in perinatal and adult life.Read moreRead less
ARC/NHMRC Research Network in Genes and Environment in Development. Interactions between the early environment and the genetic regulatory program of the developing organism have major consequences for the lifetime health of individuals. The primary objective of the Network in Genes and Environment in Development is to harness the resources of leading researchers from the currently distinct disciplines of developmental biology and developmental physiology to define key developmental regulatory ne ....ARC/NHMRC Research Network in Genes and Environment in Development. Interactions between the early environment and the genetic regulatory program of the developing organism have major consequences for the lifetime health of individuals. The primary objective of the Network in Genes and Environment in Development is to harness the resources of leading researchers from the currently distinct disciplines of developmental biology and developmental physiology to define key developmental regulatory networks and to address how environmental factors impinge on these regulatory networks. The formation of this National Research Network is unique, timely and strategic. It will generate new insights into the mechanisms by which events in early life determine the risk of adverse outcomes in perinatal and adult life.Read moreRead less
Cell type-specific transgene expression to increase Fe content in cereal grains. The grains industry forms a vital part of the Australian economy and farm sector. Increased iron concentrations of wheat and other cereal grains would greatly increase their nutritional value for people worldwide, thereby increasing their market value and profitability for farmers. High iron wheat would also lower the production costs of many Australian wheat products by reducing or eliminating the need for iron for ....Cell type-specific transgene expression to increase Fe content in cereal grains. The grains industry forms a vital part of the Australian economy and farm sector. Increased iron concentrations of wheat and other cereal grains would greatly increase their nutritional value for people worldwide, thereby increasing their market value and profitability for farmers. High iron wheat would also lower the production costs of many Australian wheat products by reducing or eliminating the need for iron fortification of wheat flour. High iron cereals promote healthy development of young Australians and can improve preventative healthcare by reducing the incidence of iron deficiency anaemia and biochemical deficiency.Read moreRead less
Cerebral Palsy (CP) is a devastating, common developmental brain disorder once assumed to be due to lack of oxygen at birth. Using our unique Biobank with DNA and clinical data from families with a CP child, we are examining the genetic origins of CP and how genes and risk factors in pregnancy contribute. We will use computer modelling and testing in animals and brain cells, to understand causes of CP and devise predictive, preventative and therapeutic strategies.
Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain
Funder
National Health and Medical Research Council
Funding Amount
$17,652,824.00
Summary
The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
Histone Demethylase KDM6A Is A Novel Target For Treating Craniosynostosis In Children With Saethre-Chotzen Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$548,854.00
Summary
Children with Saethre-Chotzen syndrome exhibit premature fused coronal sutures, and other skull/ skeletal malformations. Surgical intervention is the only treatment option to ensure optimal cognitive and skeletal development. Our studies have identified a candidate molecular pathway that regulates bone formation by cranial bone cells from these patients. Targeting this key molecular regulator with chemical inhibitors will help prevent the premature fusion of cranial sutures.