The Role Of Dynamin In Spermatogenesis, Sperm Maturation And Sperm-oocyte Interactions
Funder
National Health and Medical Research Council
Funding Amount
$551,950.00
Summary
Male infertility is an extremely common condition affecting 1 in 20 Australian men. One of the major reasons for this pathology is that the spermatozoa have lost their ability to interact with the egg and penetrate its outer vestments. In this project we shall investigate the role of dynamin in the regulation of these events. This research will provide new and powerful insights into the causes of male infertility, with practical implications for diagnosis and treatment of this condition.
Investigation Of The Mechanisms Underpinning HSPA2 Dysfunction In The Spermatozoa Of Infertile Patients
Funder
National Health and Medical Research Council
Funding Amount
$481,563.00
Summary
Male infertility is an extremely common condition, that is frequently associated with the production of sperm that have lost their ability to recognize the egg. We have shown that this defect is frequently associated with a deficiency in a specific protein (HSPA2). By determining the mechanisms underpinning the loss of HSPA2, this project will provide powerful insights into the causes of male infertility, with practical implications for prevention, diagnosis and treatment of this condition.
Understanding Idiopathic Male Infertility: Biomarkers To Assist In The Diagnosis And Assisted Reproductive Technology Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$411,012.00
Summary
In order to help in the diagnosis of male infertility, we have found several biomarkers that can be readily and quickly used to determine if a mans spermatozoa are infertile. Not only will this save time and money for couples involved in IVF, but help to avoid unnecessary, often invasive medical procedures that are currently used.
Information Encoding By Temporal Structure Of Afferent Spike Trains
Funder
National Health and Medical Research Council
Funding Amount
$231,175.00
Summary
Our ability to sense, discriminate and interpret touch stimuli underpins some of the most crucial functions of the human hand that relate to object exploration and manipulation. The fundamental mechanism of how nerve impulses generated by tactile receptors are interpreted by the nervous system is not understood. Only by discovering the underlying neural encoding mechanisms can we appreciate the functional impairments in patients and learn to identify them before they become widespread and irreve ....Our ability to sense, discriminate and interpret touch stimuli underpins some of the most crucial functions of the human hand that relate to object exploration and manipulation. The fundamental mechanism of how nerve impulses generated by tactile receptors are interpreted by the nervous system is not understood. Only by discovering the underlying neural encoding mechanisms can we appreciate the functional impairments in patients and learn to identify them before they become widespread and irreversible.Read moreRead less
A Brain-based Model Of Anxiety Sensitivity In Panic Disorder
Funder
National Health and Medical Research Council
Funding Amount
$402,214.00
Summary
This project will combine advanced brain imaging and brain network modelling to better understand the neurobiology of panic disorder with relevance to its treatment.
Cardiomyopathies (heart muscle problems) are the most common inherited heart conditions and represent an important clinical problem. The clinical and psychosocial impact on both the children and their families is significant. The proposed research will improve our understanding of the clinical and genetic basis of childhood cardiomyopathies, and how genetic factors may influence the development, progression, and clinical outcome, including heart failure, transplantation, and sudden death.
Bio-molecular Studies For Improved Diagnosis And Management Of Australian Children With Fish Allergy
Funder
National Health and Medical Research Council
Funding Amount
$496,602.00
Summary
Allergy to fish among children is often life-long and emerging as a significant healthcare issue worldwide, while management of fish allergy is challenging due to the lack of reliable diagnostic assays. This research grant will lead to the development of novel diagnostics for fish allergy in Australia, addressing aspects of the worldwide food allergy epidemic and forms the ideal platform for the study of fish specific allergens, generating novel knowledge for greatly improved patient management.
Transforming The Diagnosis Of Mitochondrial Disorders Using High-throughput Sequencing, Functional Prediction And Experimental Validation
Funder
National Health and Medical Research Council
Funding Amount
$670,794.00
Summary
The human genome project sparked enormous improvements in our ability to sequence DNA. “Next Generation” DNA sequencing can potentially sequence an individual’s entire genome in a week and has the ability to transform the diagnosis of inherited diseases but is as yet unproven in a medical genetics context. We will develop and validate the use of Next Generation sequencing to enable the rapid sequencing of over 1000 genes in which mutations cause inherited metabolic diseases.
A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.
Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.