Attention deficit hyperactivity disorde(ADHD) is the most prevalent mental disorder of childhood affecting around 7.5% of Australian school age children. The disorder is strongly genetic and causes significant impairments in academic functioning, family and peer relations with sufferers at increased risk for drug abuse. Identification and characterisation of rare mutations will enhance our knowledge of the neurobiology and advance the search for next generation drug treatments for the disorder.
Risk Factors For Molecular Sub-types Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$439,194.00
Summary
Colorectal cancer is Australia's most common cancer. It actually has several subtypes that probably have different causes and which may respond differently to treatment . The aim of this study is to see whether risk factors for a newly identified form of colorectal cancer, called CIMP, differ from those for the more common form of colorectal cancer. Knowing this may help us understand better how the disease is caused and so design better ways to prevent it.
Professor Scheffer and her collaborators lead the world in the discovery of the genetic causes of epilepsy. She will continue to identify new and refine known epilepsy syndromes and develop the classification of the epilepsies. Together with molecular colleagues, she will continue to discover the underlying genes causing this debilitating disorder leading to novel insights into the neurobiology. Her work may lead to new treatments and improve outcomes for people for epilepsy.
Lipoprotein Metabolism And Mutations Of The APOB Gene Causing Familial Hypobetalipoproteinaemia
Funder
National Health and Medical Research Council
Funding Amount
$396,179.00
Summary
Cardiovascular disease is an increasing problem in Australia, however, the cause of atherosclerosis is incompletely understood. A protein, known as apolipoprotein (apo) B, plays a central role in lipoprotein metabolism. Elevated levels of apoB are characteristic of many forms of hypercholestrolaemia. Familial combined hyperlipidaemia and polygenic hypercholesterolaemia are two common inherited disorders of lipoprotein metabolism that are characterised by elevated apoB levels in the blood and ear ....Cardiovascular disease is an increasing problem in Australia, however, the cause of atherosclerosis is incompletely understood. A protein, known as apolipoprotein (apo) B, plays a central role in lipoprotein metabolism. Elevated levels of apoB are characteristic of many forms of hypercholestrolaemia. Familial combined hyperlipidaemia and polygenic hypercholesterolaemia are two common inherited disorders of lipoprotein metabolism that are characterised by elevated apoB levels in the blood and early atherosclerosis. In contrast, familial hypobetalipoproteinemia is a rare inherited disorder of lipoprotein metabolism characterised by very low levels of cholesterol and apoB in the blood and resistance to atherosclerosis and cardiovascular disease. The focus of this research project is to explore the regulation of apoB metabolism using individuals from unique families with familial hypobetalipoproteinaemia. First, we will determine and characterise the alterations in the APOB gene causing the low cholesterol levels in families with familial hypobetalipoproteinaemia. Second, we will determine if these apoB alterations affect the production and-or clearance of blood fats, or lipoproteins in affected individuals, when compared to controls, by performing metabolic studies. The proposed human in vivo metabolic studies will lead to a better understanding of the mechanism(s) involved in the assembly, secretion, transport, and clearance of plasma apoB-containing lipoproteins. Furthermore, these studies may reveal new protective mechanisms and potentially aid in the development of strategies to suppress over-production of apoB-containing lipoproteins in reciprocal conditions such as familial combined hyperlipidaemia or polygenic hypercholesterolaemia.Read moreRead less
Molecular Epidemiology And High Resolution Surveillance Of Salmonella Enterica Serovar Typhimurium In Australia
Funder
National Health and Medical Research Council
Funding Amount
$583,180.00
Summary
Salmonella typhimurium is a leading cause of the food-borne disease – salmonellosis. It is responsible for considerable morbidity and has an enormous economic cost. Molecular typing is the key to rapidly identify and control outbreaks. This project will employ next generation sequencing technology to develop a new molecular typing scheme. A surveillance system that integrates molecular typing data and epidemiological data will be developed for outbreak investigation and disease prevention.