A Phenomic And Genomic Approach To Identifying Pharmaceutical Targets For The Amelioration Of Hematopoietic Deficit
Funder
National Health and Medical Research Council
Funding Amount
$87,000.00
Summary
Mice and humans are genetically and physiologically similar, and are afflicted by many of the same diseases. By introducing random DNA mutations into the germline, mice with diseaseassociated characteristics can be generated, allowing the subsequent identification of genes involved in particular human disease processes. This project will utilise cutting-edge genetic technologies to discover genes that regulate production of the body�s principal blood clotting agents: platelets. This is of partic ....Mice and humans are genetically and physiologically similar, and are afflicted by many of the same diseases. By introducing random DNA mutations into the germline, mice with diseaseassociated characteristics can be generated, allowing the subsequent identification of genes involved in particular human disease processes. This project will utilise cutting-edge genetic technologies to discover genes that regulate production of the body�s principal blood clotting agents: platelets. This is of particular clinical and commercial importance since a reduction in platelet numbers is the life-threatening result of congenital and autoimmune diseases, viral infections (e.g. HIV) and cancer chemotherapy.Read moreRead less
Nemaline myopathy is a neuromuscular condition characterised by muscle weakness, low muscle tone and the finding of nemaline bodies or rods on muscle biopsy. This study encompasses a natural history study of nemaline myopathy, genetic diagnosis and gene discovery using new methods of genetic testing, characterisation of a new disease gene for this condition, and reviewing patient experience with tyrosine, a medication commonly used in patients with nemaline myopathy.
ARMC5 And Other Genetic Contributions In Endocrine Neoplasia
Funder
National Health and Medical Research Council
Funding Amount
$124,676.00
Summary
The adrenal glands secrete essential hormones and can enlarge or develop tumours leading to conditions including obesity, high blood pressure, diabetes, brittle bones and infections. We recently found that adrenal enlargement and tumours may be due to changes in the ARMC5 gene. We will perform genetic testing in affected patients across Australia to evaluate the roles of ARMC5 & other genes. Our goal is to better understand how these conditions develop so as to improve diagnosis and treatment.
Neurobiology Of Childhood Speech And Language Disorders: Advancing Diagnosis, Prognosis And Management
Funder
National Health and Medical Research Council
Funding Amount
$467,961.00
Summary
Half a million Australian children have a speech/language disorder, tripling their changes of poor academic outcomes, limited employment options and social isolation. Current speech therapy is outdated, focusing on symptoms and ignoring important evidence on underlying aetiologies. I will transform detection, diagnosis and treatment of speech/language disorders to optimise patient outcomes, by identifying and translating findings on genes and brain pathways leading to these conditions.
Translation Of PALB2 Genetic Information Into Breast Cancer Clinical Genetic Services
Funder
National Health and Medical Research Council
Funding Amount
$423,081.00
Summary
Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of breast cancer are not considered for testing of PALB2 despite mounting evidence that the risk of breast cancer in mutation carriers is at least as high as the risk for BRCA2 mutation carriers. This project will provide the evidence base to support the incorporation of PALB2 gene testing into routine clinical genetics services both in Australia and around the ....Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of breast cancer are not considered for testing of PALB2 despite mounting evidence that the risk of breast cancer in mutation carriers is at least as high as the risk for BRCA2 mutation carriers. This project will provide the evidence base to support the incorporation of PALB2 gene testing into routine clinical genetics services both in Australia and around the world.Read moreRead less
Australian Ovarian Cancer Study (AOCS): A Multidisciplinary Ovarian Cancer Resource For The Genomic Era
Funder
National Health and Medical Research Council
Funding Amount
$1,404,500.00
Summary
Ovarian cancer is relatively uncommon and is histologically very diverse, making it difficult to analyse ovarian cancer at a molecular level, to identify genetic risk factors, or to understand the interaction of genes and environment. Recognizing that a large collaborative study was the only way to achieve sufficient power to address major translational questions in ovarian cancer, the Australian Ovarian Cancer Study was established and is now the largest study of its kind in the world. This pro ....Ovarian cancer is relatively uncommon and is histologically very diverse, making it difficult to analyse ovarian cancer at a molecular level, to identify genetic risk factors, or to understand the interaction of genes and environment. Recognizing that a large collaborative study was the only way to achieve sufficient power to address major translational questions in ovarian cancer, the Australian Ovarian Cancer Study was established and is now the largest study of its kind in the world. This proposal aims to maintain and add value to this unique resource for ovarian cancer research.Read moreRead less
Molecular Epidemiology Of Ovarian Cancer: The Australian Ovarian Cancer Study National Clinical Follow-Up Core
Funder
National Health and Medical Research Council
Funding Amount
$883,244.00
Summary
Ovarian cancer is the seventh most common cancer in Australian women and fifth most common cause of cancer death, with approximately 1200 new cases diagnosed and 750 deaths each year. There is an urgent need to better understand the molecular, epidemiological and genetic characteristics of epithelial ovarian cancer and how these influence response to treatment and clinical outcome. Ovarian cancer is a histologically and clinically diverse disease and the variability in clinical outcome in ovaria ....Ovarian cancer is the seventh most common cancer in Australian women and fifth most common cause of cancer death, with approximately 1200 new cases diagnosed and 750 deaths each year. There is an urgent need to better understand the molecular, epidemiological and genetic characteristics of epithelial ovarian cancer and how these influence response to treatment and clinical outcome. Ovarian cancer is a histologically and clinically diverse disease and the variability in clinical outcome in ovarian cancer patients suggests that reliable predictive factors would be of clinical value. However, it is clear that the collection of hundreds of annotated biospecimens is essential if the interaction of genes and environment in the genesis of this disease is to be understood or the molecular features of this disease dissected. Recognizing that this can only be achieved through large-scale collaboration, the Australian Ovarian Cancer Study (AOCS) was established in 2000 by scientists from the Peter MacCallum Cancer Centre, the Queensland Institute for Medical Research, Melbourne University and Westmead Institute for Cancer Research in collaboration with clinicians across Australia. AOCS has recruited 1105 patients to date and this Research Proposal aims to complete the collection of clinical data on all AOCS patients nationally, to validate the use of microarray gene expression profiles to predict clinical outcome and to find genetic variants that may determine clinical outcome in individual patients. The creation of AOCS has provided a unique oportunity to collect one of the finest ovarian cancer biological sample sets in the world. We believe that this internationally significant study will shed light on the basis of response of ovarian cancer to treatment and provide an ongoing resource for research into the causes of ovarian cancer, and studies on the response to treatment.Read moreRead less