The Use Of Next Generation Sequencing To Diagnose Neurogenetic Disease
Funder
National Health and Medical Research Council
Funding Amount
$55,689.00
Summary
For two groups of neurogenetic disease, leukodystrophy and polymicrogyria, the underlying genetic cause is not known for at least 50% of cases. In these cases, patients and their families do not have access to accurate genetic counselling, prognostic information or targeted therapeutics. This study will use new genetic technologies to identify the specific genetic causes underlying these diseases. These results will improve patient care and our understanding of the disease mechanisms.
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
Lung cancer is a leading cause of cancer death globally. Symptoms may not develop until disease is advanced, so it is often incurable at diagnosis. Scientific developments have greatly improved our ability to test for the changes in DNA structure and function responsible for this deadly disease and its progression. This study examines whole lung cancer genomes then uses these findings to develop safer methods for detection based on changes in DNA sequence.
Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disord ....Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disorders.Read moreRead less
Genetic And Functional Analysis Of Brain Malformations
Funder
National Health and Medical Research Council
Funding Amount
$105,327.00
Summary
Disorders of early brain development are recognised as a significant cause of illness and disability in children. Unfortunately, the causes of these conditions are poorly understood, and treatment options are limited. It has become apparent that many of these conditions have an underlying genetic basis. This project will identify genes that regulate brain development and aid the development of improved treatment programs for brain and mind disorders.
Investigating Friedreich Ataxia Cardiomyopathy And Ophthalmopathy Using Induced Pluripotent Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$136,205.00
Summary
There is no effective treatment for Friedreich ataxia (FRDA). Patients, usually diagnosed as children, will end up in wheelchairs; many have difficulty with movement, speech, develop eye problems and diabetes. Most die at a young age from heart failure. In this project we will study stem cells from patients with FRDA. In the laboratory, these stem cells will be turned into heart and eye cells to study why patients with FRDA develop symptoms and to help develop new drugs to provide effective trea ....There is no effective treatment for Friedreich ataxia (FRDA). Patients, usually diagnosed as children, will end up in wheelchairs; many have difficulty with movement, speech, develop eye problems and diabetes. Most die at a young age from heart failure. In this project we will study stem cells from patients with FRDA. In the laboratory, these stem cells will be turned into heart and eye cells to study why patients with FRDA develop symptoms and to help develop new drugs to provide effective treatment.Read moreRead less
Application Of New Chemistry Approaches For Antimalarial Drug Discovery
Funder
National Health and Medical Research Council
Funding Amount
$74,263.00
Summary
Malaria kills approximately one million people annually. Currently there no vaccine and many of the available drugs are becoming less effective due the resistance of this highly adaptable parasite. My aim is to develop new chemical classes of drugs that inhibit different targets in the malaria parasite to the currently available drugs. In addition to this I aim to improve the present systems for assessing antimalarial drug effects using new chemical approaches and live parasite assays.
SFRP4 As A Novel Diagnostic And Therapeutic Target For Gastric Cancer
Funder
National Health and Medical Research Council
Funding Amount
$137,700.00
Summary
Gastric cancer is a common cancer with poor survival, but is and potentially curable when diagnosed at an early stage. However currently there are no non-invasive markers for the early detection of gastric cancer, and treatments for advanced cancer are limited. Secreted frizzled related protein 4 (SFRP4) is a protein that is thought to play a role in invasion of gastric cancer. This study will investigate the utility SFRP4 as a diagnostic test and possible therapeutic for gastric cancer.
Mechanisms Of Gender Differences In Genetic Aortopathy
Funder
National Health and Medical Research Council
Funding Amount
$122,686.00
Summary
This project will investigate the molecular mechanisms that underly the gender differences in phenotypic expression in young adults with genetic aortopathy.