Identifying Rare Genetic Variants Conferring Susceptibility To Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$293,898.00
Summary
Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that have been discovered so far have modest effects on risk of disease, and only explain a small proportion of familial aggregation of disease. In this study we aim to identify rarer genetic variants that have stronger effects on risk of disease, using new statistical methods and new methods to sequence very large amounts of DNA.
Unravelling The Molecular Basis Of Amyotrophic Lateral Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$342,325.00
Summary
The only known causes of ALS are gene mutations. State-of-the-art technologies will be used to find genetic causes of ALS to add to existing diagnostic testing and facilitate investigation into disease mechanism. ALS patients experience different disease courses, with variable age of onset, progression and duration of disease even among those with identical gene mutations. We will examine a well-characterised ALS patient cohort with differing disease manifestations to identify disease modifiers.
Investigation Of Dysfunction Of OPRS1, A Novel Gene Implicated In Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$535,471.00
Summary
A new gene has recently been discovered to play an important role in various brain and nerve degeneration disorders, including frontotemporal dementia and motor neuron disease. The aim of this project is to discover what biological processes are involved when this gene malfunctions, as this will provide knowledge important for development of new treatments for the many people worldwide affected with these disorders.
Biological Characterisation Of The Opiod Receptor Sigma 1 Gene In The Frontotemporal Dementia And Motor Neuron Disease
Funder
National Health and Medical Research Council
Funding Amount
$480,211.00
Summary
Frontotemporal dementia (FTD) and motor neuron disease (MND) are the two common causes of dementia and neurodegeneration. We have identified a new genes that causes familial FTD and MND in pedigrees affected with dementia and-or MND.This project will study the expression and function of this new FTD-MND gene to determine its role in the aetiology and pathology of this complex of neurodegenerative disorders.