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.
Age Related Macular Degeneration: Novel Ways To Reduce Vision Loss Through Understanding A High-risk Phenotype And Validating A New Early Intervention.
Funder
National Health and Medical Research Council
Funding Amount
$2,156,372.00
Summary
Age-related macular degeneration (AMD) is the leading cause of vision loss in older individuals. AMD eyes with reticular pseudo drusen (RPD) are now recognised as at high-risk of faster progression to vision loss. Identifying the underlying mechanisms driving RPD is crucial for to identify specifically targeted therapeutic options. Validating our subthreshold laser trial, and our early endpoint will offer the first proven intervention to slow AMD progression to vision loss.
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
Advancing Diagnostics For The Congenital Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$69,500.00
Summary
The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatm ....The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.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.
Integrating Genotype And Phenotype In Clinical Molecular Epidemiology
Funder
National Health and Medical Research Council
Funding Amount
$316,449.00
Summary
With an ever increasing availability of virus genetic sequences and clinical data, we can apply new approaches to better understand and combat infectious diseases. This study aims to develop new state-of-the-art tools to answer such questions as: Do viruses evolves to become more virulent? How does drug resistance emerge and spread through virus populations? And more generally, how does virus genetics contribute to the variation in disease outcomes?
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.
Genomic Adaptation Of Pseudomonas Aeruginosa In The Cystic Fibrosis Airway
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Pseudomonas aeruginosa (Pa) is an important respiratory pathogen in Cystic Fibrosis (CF) which causes substantial morbidity and mortality. Its genetic versatility enables it to thrive in a wide diversity of environment. This study aims to assess the genomic adaptation of the common Pa strains among the Australian CF patients during chronic infection and during intravenous antibiotics therapy. The study results can lead to development of novel treatment options for Pa infection in CF.
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.