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.
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.
Tyrosine Kinase Receptor C-ros-oncogene 1 Mediates Twist-1 Haploinsufficiency Induced Craniosynostosis In Children: A Novel Therapeutic Target
Funder
National Health and Medical Research Council
Funding Amount
$562,863.00
Summary
Children with Saethre-Chotzen syndrome exhibit premature fussed 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 these key molecular signalling components with chemical inhibitors will help prevent the premature fusion of cranial sutures.
Clarifying The Pathogenic Role Of Arousal-hyperventilation In Obstructive And Central Sleep Apnoea: Testing Fundamental Pathophysiological Mechanisms And A Strategic New Treatment
Funder
National Health and Medical Research Council
Funding Amount
$414,717.00
Summary
This project is designed to understand the mechanisms underpinning much more stable breathing during deep sleep in obstructive sleep apnoea (OSA). A newly developed analytical technique will be used to examine breathing effort changes across sleep, and interactions with respiratory-induced awakenings in OSA patients. In addition, a new treatment designed to stabilise breathing will be tested and refined towards a new treatment option for OSA and for central sleep apnoea.
A Pragmatic Randomised Clinical Trial Of Nicotine Vaporisers Added To Smoking Cessation Treatment For Priority Populations Living With Comorbidities
Funder
National Health and Medical Research Council
Funding Amount
$1,499,145.00
Summary
Smoking is a leading cause of early death for people with certain health conditions because they are more likely to smoke and are also at greater risk of tobacco-related disease. This clinical trial will test whether encouraging people living with Hepatitis C Virus, people on opiate substitution therapy and people living with HIV who smoke to use nicotine vaporisers long-term, in addition to current smoking cessation treatments, will help them to stay abstinent from smoking.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less