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.
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.
Identifying Glaucoma Risk Variants In The Norfolk Island Genetic Isolate
Funder
National Health and Medical Research Council
Funding Amount
$658,447.00
Summary
Primary open angle glaucoma is the most common form of glaucoma. In this project we will focus on the identification of functional genetic variants influencing development of this disorder, using a powerful whole exome sequencing approach in a large multigenerational pedigree from the Norfolk Island population isolate. The identification of genes influencing glaucoma development would provide invaluable clues to aid in defining the pathophysiology of this common disease.
The Effects Of ACTN3 R577X On Muscle Wasting And Repair, And Response To Therapy
Funder
National Health and Medical Research Council
Funding Amount
$1,066,054.00
Summary
Complete loss of ACTN3 is normal and occurs in 1 in 5 people world-wide. While it does not cause disease, loss of ACTN3 results in ~10% reduction in muscle mass and strength. This has tremendous impact not only on the success of elite athletes but also the quality of life in people who are already frail. Precisely how ACTN3 affects muscle mass is unclear. Understanding this will help identify the patients who are at greater risk of muscle wasting and also the therapies that will best treat them.
Genomic Medicine: Predictors Of Refractory Ulcerative Colitis And Its Response To Treatment
Funder
National Health and Medical Research Council
Funding Amount
$879,048.00
Summary
Ulcerative colitis (UC) is a major form of inflammatory bowel disease, affecting over 35,000 Australians. Symptoms include bleeding from the anus, tummy pain, and diarrhoea. There is a 1 in 4 risk of needing major surgery for UC. Our study will use current genetic techniques to classify patients according to the severity of their colitis, and their response to treatments. This will allow clinicians to personalize medical treatment far more effectively from the outset of a patients’ disease.
A Multi-site Study Of Tamoxifen Dose Escalation Study In Breast Cancer Patients With CYP2D6 Polymorphisms (TADE Study)
Funder
National Health and Medical Research Council
Funding Amount
$340,768.00
Summary
Tamoxifen is a selective anti-oestrogenic medication commonly used to treat breast cancer. Recent evidence suggests that tamoxifen may not be adequately activated in the body of some people because of their genetic make-up, and that this may reduce its effectiveness. In this study of 120 women, we will determine whether increasing tamoxifen dosage is a useful strategy in people with low activation levels. This could provide practical guidance for patients and clinicians managing breast cancer.
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
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.
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.