Modeling Human Actin Related Protein 2/3 Complex Subunit 1B (ARPC1B) Deficiency In Mice
Funder
National Health and Medical Research Council
Funding Amount
$755,005.00
Summary
The actin cytoskeleton forms the structure that not only keeps cells in their normal shape but is also essential for the movement of cells and for interaction between cells. We have recently identified the first patients with an immunodeficiency caused by a defect in a gene called ARPC1B, which plays a crucial role in the regulation of actin. Through the investigation of novel mouse models we will elucidate the pathomechanism underlying the disease of these patients.
Investigating B Cell Development, Maintenance And High-affinity Antibody Production By ENU Mutagenesis
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
B cells are essential for the protection against infections. This application aims to identify new genes that are crucial for the development or function of B cells and will investigate how mutations in newly discovered genes contribute to defects in the development and function of B cells and the pathogenesis of B cell leukaemia.
Role Of SPPL2A On B Cell Survival And Antibody Production In Mice And Humans
Funder
National Health and Medical Research Council
Funding Amount
$592,989.00
Summary
B lymphocytes are a specialised type of blood cells that produce antibodies in response to a pathogen or a vaccine. We have recently discovered that all mature B cells depend for their survival on a previously unknown protein called SPPL2A. This application will investigate the molecular mechanism through which SPPL2A contributes to the survival of B cells. We will also investigate if humans with currently unexplained B cell deficiency have mutations in SPPL2A.
Genotypes And Phenotypes Of Human Primary Non-congenital Antibody Deficiency
Funder
National Health and Medical Research Council
Funding Amount
$544,692.00
Summary
Antibodies represent a key component of the immune system, and a particularly important in defence against bacterial and viral infections. In some individuals, antibody production fails, rendering them more susceptible to infection. In most cases, the mechanism of antibody failure is unknown. This project seeks to determine the genetic and cellular mechanisms of antibody failure. This could improve diagnosis for immune deficiency, and improve our overall understanding of the immune system.
Understanding The Role Of The Putative Phospholipid Translocase ATP11c In B Cell Development
Funder
National Health and Medical Research Council
Funding Amount
$455,153.00
Summary
The immune system protects humans against recurrent infections with a wide range of pathogens. Formation of antibodies is a crucial element of the immune response. Defects in the production of antibodies can lead to recurrent and often life-threatening infections. This project seeks to understand a genetic defect in mice resulting in an almost complete absence of antibody producing cells, thereby causing a disease that is similar to some forms of human immunodeficiency.
How BANK1 Pathway Defects In B Cells Cause Human Lupus
Funder
National Health and Medical Research Council
Funding Amount
$1,316,839.00
Summary
Autoimmune diseases affect 1 in 20 Australians and are incurable. To find effective therapies, we need to understand the genes that cause disease in humans. We have sequenced the entire genome of patients with an autoimmune disease and found several patients carrry two mutations in genes important for activation of B cells and shown these mutations cause disease. We plan to understand how these genes prevent autoimmunity, and to identify the best treatment for patients with these mutations.
Uncovering The Basis Of Inflammatory And Immunodeficiency Diseases
Funder
National Health and Medical Research Council
Funding Amount
$15,718,075.00
Summary
A world-class team from 3 institutions, spanning disciplines of clinical and experimental immunology, therapeutics, signalling and genetics, will identify how immune and inflammatory responses are controlled in both health and disease. The major outcomes of this work will be the generation of new knowledge, concepts and approaches to diagnose, prevent and treat the major human health problems of autoimmune diseases, inflammation, allergy and immunodeficiency.
Methylation Sensitive Genes And The Transition To Allergic Disease: A Twin Study
Funder
National Health and Medical Research Council
Funding Amount
$493,843.00
Summary
Australia has amongst the highest reported prevalence allergic conditions (including asthma) in the world. Despite this, little is known about how these conditions arise. Mounting evidence implicates environmentally induced disruption of the genetic blueprint via a process known as epigenetics. We are combining the strengths of a unique collection of identical twins where one of a pair is sensitive to house dust mite, with cutting edge genomics, to characterise the pathways leading to allergy in ....Australia has amongst the highest reported prevalence allergic conditions (including asthma) in the world. Despite this, little is known about how these conditions arise. Mounting evidence implicates environmentally induced disruption of the genetic blueprint via a process known as epigenetics. We are combining the strengths of a unique collection of identical twins where one of a pair is sensitive to house dust mite, with cutting edge genomics, to characterise the pathways leading to allergy in children.Read moreRead less
The Tasmanian Healthy Brain Project: A Longitudinal Intervention Study To Reduce The Risk Of Ageing-related Cognitive Decline And Dementia
Funder
National Health and Medical Research Council
Funding Amount
$878,792.00
Summary
It has been proposed that engagement in purposeful complex mental stimulation provides protection against dementia. The Tasmanian Healthy Brain Project (THBP) is a unique, large-scale prospective trial that examines whether university-level study in older adult population reduces ageing-related cognitive decline and risk of dementia. This project will also examine how an individual’s genetic profile may influence the potential benefits of complex mental stimulation as well as risk of dementia.
Individual Differences in Orientations to Risk and Uncertainty. The main goal of this research project is to extend and integrate three individual-differences approaches to predicting and explaining human judgement and decision making (JDM) and risk-taking behaviours (RTB) under uncertainty: Cognitive-capacity, preferences and dispositions, and dual cognitive process approaches. It will achieve this by studying the joint impact of cognitive style, capacities, and RTB/JDM dispositions on performa ....Individual Differences in Orientations to Risk and Uncertainty. The main goal of this research project is to extend and integrate three individual-differences approaches to predicting and explaining human judgement and decision making (JDM) and risk-taking behaviours (RTB) under uncertainty: Cognitive-capacity, preferences and dispositions, and dual cognitive process approaches. It will achieve this by studying the joint impact of cognitive style, capacities, and RTB/JDM dispositions on performance in appropriate JDM tasks. JDM and RTB are at the root of managing uncertainty, human adaptiveness and rationality. This project will also extend our knowledge of gender differences in JDM and RTB, and lay foundations for systematic cross-cultural studies on this topic.Read moreRead less