Collagen II Mutations And The Unfolded Protein Response In Inherited Cartilage Disease
Funder
National Health and Medical Research Council
Funding Amount
$92,314.00
Summary
In genetic diseases, gene mutations commonly cause proteins to fold abnormally. This can cause cell stress resulting in cell death. My studies will determine the role of cell stress in a clinically important group of diseases, caused by cartilage collagen mutations, that result in abnormal development of the skeleton. These studies will define the mechanisms of how cell stress causes these disorders; knowledge that will underpin the development of new therapeutic strategies
Improving Repair In Dystrophic Muscles By Targeting ADAMTS5 Activity And Connective Tissue Remodeling
Funder
National Health and Medical Research Council
Funding Amount
$95,313.00
Summary
In muscle diseases such as muscular dystrophy degeneration exceeds its capacity to repair. Connective tissue remodelling facilitates the repair process; however the mechanisms by which it does this are poorly defined. This Project examines the role of connective tissue turn-over during muscle repair. It is anticipated that new insights into muscle regeneration will be gained to underpin development of therapeutics that promote muscle repair in skeletal muscle wasting diseases.
Determining The Genetic Basis Of Skeletal Dysplasias Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$110,068.00
Summary
Osteoporosis is a common condition in Australia, yet treatment options are still limited. Study of rare genetic bone conditions known collectively as skeletal dysplasias have already led to the development of two new osteoporosis drug treatments. My project aims to identify the causative gene for several skeletal dysplasias, and to determine how these genes are involved in the development and maintenance of bone. This knowledge may then translate into new osteoporosis therapies.
Tissue Engineering Skeletal Muscle – An Important Link In The Neuro-prosthetic Interface Of Bionic Limbs.
Funder
National Health and Medical Research Council
Funding Amount
$86,733.00
Summary
Limb loss after tumour, trauma, disease or degeneration is a major cause of disability. Use of a patient’s own nerve signals may offer an intuitive method for controlling a robotic limb to regain independence. Delicate nerves are damaged by the electrodes required for recording nerve signals, but muscles tolerate electrodes well. This project aims to create an artificial muscle construct as a bridge between nerve signals and recording electrodes to enable patient control of robotic limbs.
Musculoskeletal Strength In End Stage Kidney Disease
Funder
National Health and Medical Research Council
Funding Amount
$109,358.00
Summary
People with advanced kidney disease have poorer musculoskeletal health leading to reduced quality of life. This project will examine the associations of musculoskeletal health and neuropathy with immediate and long term clinical outcomes.
Does Rehabilitation Increase The Functional Independence Of People With Friedreich Ataxia?
Funder
National Health and Medical Research Council
Funding Amount
$81,811.00
Summary
Friedreich Ataxia (FRDA) is a disease which reduces the ability to walk. People decline rapidly and are usually dependent on a wheel-chair by 20-30 years of age. This research will examine the impact of changes in leg function, including strength and balance, on the capacity to walk. This research will determine if rehabilitation can improve walking ability and reduce the decline in FRDA. The results of this research will ensure people with FRDA are provided with the most appropriate care.
Clinical Genetics Studies Of Speech And Language Disorders In Large Families.
Funder
National Health and Medical Research Council
Funding Amount
$160,368.00
Summary
Childhood speech and language disorders are common and may have negative long term outcomes. We have a limited understanding of what causes these disorders, which impacts our ability to manage and treat those affected. This project will utilise large families to investigate causes and clinical features of speech and language disorders. This is an exciting and relatively under-research area, and has the potential to lead to improved outcomes for children affected with speech and language disorder ....Childhood speech and language disorders are common and may have negative long term outcomes. We have a limited understanding of what causes these disorders, which impacts our ability to manage and treat those affected. This project will utilise large families to investigate causes and clinical features of speech and language disorders. This is an exciting and relatively under-research area, and has the potential to lead to improved outcomes for children affected with speech and language disorder.Read moreRead less
Social Functioning And Autism Spectrum Disorder In Children With Neurofibromatosis Type 1: A Multimodal Study.
Funder
National Health and Medical Research Council
Funding Amount
$107,204.00
Summary
Social difficulties and symptoms of autism spectrum disorder (ASD) are frequently found in children with neurofibromatosis type 1 (NF1), a common genetic condition. The current study will examine (1) prevalence and characteristics of ASD and social impairment in children with NF1, (2) cognitive factors contributing to ASD symptoms and (3) associated compromise to brain structure. Findings are expected to guide development of treatments to improve social functioning in children with NF1.
High Speed Video To Assess Eye Movements In Vestibular Dysfunction - A Validation Study
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Dizziness affects a third of the population during their lives. Abnormal eye movements are often the best guide as to what has gone wrong in the dizzy person. The problem is that these eye movements can be difficult to see, and hence measure, as a way of diagnosing and then treating the dizziness. Video-oculography holds great promise for helping doctors identify the cause, and in many cases offer simple curative treatment, for dizziness.
The Incidence And Genetics Of The Infantile Epileptic Encephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$175,224.00
Summary
Severe epilepsies with frequent seizures and cognitive impairments in the first 18 months of life are known as ‘infantile epileptic encephalopathies’ (IEE). The cause of IEE is unknown in many patients, although presumed genetic. This study of patients with IEE in Victoria aims to describe the incidence of IEE, and understand the genetic causes of IEE. Understanding the causes of IEE will be the first step towards development of urgently-needed novel therapies for these devastating conditions.