Gene Expression Biomarkers Predict Severe Asthma Inflammatory Phenotype, Activation Mechanisms And Treatment Response
Funder
National Health and Medical Research Council
Funding Amount
$465,627.00
Summary
Asthma is now recognised to be made up of several disease variants or phenotypes, which are likely to have different underlying causes and mechanisms. We lack understanding of how to identify phenotypes of asthma and how they work, and this is delaying research that will lead to improvements in treatments and patient care. This is particularly important in people with severe disease. This grant will establish a gene test to identify asthma phenotype, and further understand mechanisms and treatme ....Asthma is now recognised to be made up of several disease variants or phenotypes, which are likely to have different underlying causes and mechanisms. We lack understanding of how to identify phenotypes of asthma and how they work, and this is delaying research that will lead to improvements in treatments and patient care. This is particularly important in people with severe disease. This grant will establish a gene test to identify asthma phenotype, and further understand mechanisms and treatment responses.Read moreRead less
Novel Skeletal Muscle Enriched Genes In Muscle Biology And Disease
Funder
National Health and Medical Research Council
Funding Amount
$900,467.00
Summary
Each year hundreds of Australians are born with genetic muscle diseases, however, current methods fail to identify the causative disease gene in ~50% of patients. Here we will use expression patterns in skeletal muscle to prioritize novel candidate disease causing genes. We will functionally test the role of genes expressed in skeletal muscle cells using novel experimental assays. Uniquely, we will for the first time incorporate a novel class of gene (long non-coding RNAs) into our study.
Predicting The Successful Resolution Of Obstructive Sleep Apnoea Following Weight-loss Surgery
Funder
National Health and Medical Research Council
Funding Amount
$729,284.00
Summary
The current project aims to determine how obesity causes obstructive sleep apnoea (OSA), a disorder associated with significant cardiovascular morbidity & mortality. This research is a burgeoning area given that obesity is one of the western world’s leading health care concerns. Our findings may ultimately offer a refinement of weight-loss interventions to maximise their effects on OSA as well as offering novel treatment strategies in the management of this disorder that is desperately needed.
The Clinical Impact Of Event-based Motion Correction In Paediatric PET-CT Brain Imaging
Funder
National Health and Medical Research Council
Funding Amount
$276,104.00
Summary
Movement of the head during PET-CT brain imaging can prevent accurate diagnosis by blurring and distorting the image. The problem is perhaps most acute in paediatric patients, many of whom must be anaesthetized or sedated to avoid motion. This work will establish whether a recently developed motion correction method can improve the clinical utility of PET-CT brain images in young patients, and reduce the need for sedation and anaesthesia during the PET scan.
Heterogeneity Of Airway Smooth Muscle Remodelling In Asthma
Funder
National Health and Medical Research Council
Funding Amount
$623,078.00
Summary
Increased smooth muscle in the airways causes excessive narrowing and asthma symptoms. The distribution of the increased muscle in the lung varies between people with asthma and may determine how severe the asthma is and what treatments are best. This project will use tissues from many cases of asthma to map this distribution and will use laser scanning in the airways to develop a test to safely examine the smooth muscle in living people, in order to better treat or prevent asthma.
HIV Phenotypes Important For The Establishment Of Persistent Reservoirs In The Central Nervous System And Which Impact Neurotropism And Neuropathogenesis
Funder
National Health and Medical Research Council
Funding Amount
$762,492.00
Summary
This grant will determine whether or not the CNS is a reservoir for HIV and identify the cellular targets of persistent infection and type of HIV-1 present.
Understanding The Neurobiology Of Autism Spectrum Disorder
Funder
National Health and Medical Research Council
Funding Amount
$1,630,739.00
Summary
Autism Spectrum Disorder (ASD) is a condition that causes difficulties with social interactions and communication, and unusual or intense behaviours. In most cases, the cause is unknown; however, there is evidence that the cause is likely genetic. We are using a new method to discover genes for ASD in families by looking at how features of ASD are inherited. Discovering genes for ASD will aid the development of new therapies and help parents of children with ASD with family planning.
Gene Discovery And Functional Studies To Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$381,343.00
Summary
Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development ....Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development of effective therapies.Read moreRead less
Prevalence, Phenotype And Genotype Of Common Sleep Disorders
Funder
National Health and Medical Research Council
Funding Amount
$1,465,164.00
Summary
There is a critical need for more information on the prevalence and genetic basis of sleep disorders. The proposed study will leverage off data already collected from participants of the WA (Raine) pregnancy cohort, an internationally unique longitudinal study of 2,868 individuals followed over the last 23 yrs with comprehensive assessments starting in utero, continuing through childhood and into early adulthood.The study will replicate this battery of tests in the parents of these young adults.
Schizophrenia Under The Genomic Lens: Next Generation Sequencing Of Western Australian Families With Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$991,659.00
Summary
We will perform whole genome sequencing of 376 members of 88 Western Australian families, including 113 individuals with a diagnosis of schizophrenia. We will use the sequence data to conduct a gene-cenric analysis of rare genomic variants likely to contribute to schizophrenia risk in these families.