Nigel G Laing, NH&MRC Principal Research Fellowship: Neurogenetics – Gene Discovery, Pathobiology, Novel Therapeutics, Novel Diagnostics And Translation.
Funder
National Health and Medical Research Council
Funding Amount
$880,454.00
Summary
My Fellowship will expand my work identifying diseases genes for genetic muscle and nerve diseases by using new technologies that allow discovery of human disease genes which could not be found before. In addition, since we now have proof from mouse studies that heart actin is a target for therapy for the group of diseases that we discovered caused by mutations in the muscle actin protein, we shall take further steps towards making this therapy a reality for patients.
Translational Studies Of Novel Methods For The Assessment Of Gastrointestinal Motility.
Funder
National Health and Medical Research Council
Funding Amount
$713,517.00
Summary
Swallowing has complex physiology and swallowing problems (dysphagia) result in poor nutrition and death due to complications of aspiration. A/Prof Omari has invented a new method to assess swallowing function. The studies proposed will change how dysphagia is diagnosed and managed. The research follows three streams: (A) studies in large patient cohorts in whom a better diagnosis is needed (e.g. stroke), (B) studies of therapies and interventions and (C) studies of swallowing biomechanics.
Improving Outcomes For Individuals And Families Affected By Genetic Disease.
Funder
National Health and Medical Research Council
Funding Amount
$838,845.00
Summary
I aim to reduce illness and death caused by inherited diseases, particularly in unborn children, newborns and infants. I will do this by finding causes of inherited diseases we don’t yet know, investigating treatments for inherited diseases and developing better methods of diagnosing inherited diseases. I will also investigate methods of finding carriers of recessive diseases before they have affected children, so that they can avoid having children affected with severe diseases.
Translating Innovations In Genomic Medicine For Diagnosis And Treatment For Families With Rare Neuromuscular Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$640,210.00
Summary
Inherited neuromuscular disorders are rare but devastating, affecting a child’s ability to walk or perform activities of daily living, and many are life-limiting. Knowing the faulty gene is vital for families but is often beyond the scope of standard hospital diagnostics. My research uses the latest innovations in genomics to provide a genetic diagnosis for our families, uses cell and animal models to elucidate how diseases occur, and advances new treatments for muscle, heart and brain injury.
Improving Diagnosis And Prognosis Of Early-onset Dementia
Funder
National Health and Medical Research Council
Funding Amount
$622,655.00
Summary
Frontotemporal dementia accounts for ~15% of all dementias. It is as common as Alzheimer’s disease in the < 65 year olds but understanding of this disease remains limited. Over the next 5 years, my research will work towards improving diagnosis, prognosis and prediction of pathology, using a multidisclinary approach that combines clinical, brain imaging, genetics and neuropathological investigations. This research will contribute to improving the care and quality of life of dementia patients.
I am an epidemiologist using high quality data collections and novel methods to generate new knowledge that will help reduce the impact or prevalence of birth defects and related disability.
There are new genetic technologies on the horizon that will influence decision-making about testing in pregnancy for fetal abnormality and also create a greater need for communication of important genetic information in families. Two areas of my research will focus on these issues. I will also examine how the interaction between genes and the environment during pregnancy, specifically in relation to alcohol use and assisted reproduction, impacts on offspring health and development