Advancing Diagnostics For The Congenital Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$69,500.00
Summary
The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatm ....The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.Read moreRead less
Diagnostic And Therapeutic Implications Of Whole Genome Sequencing And Phenotyping In Hereditary Spastic Paraplegia
Funder
National Health and Medical Research Council
Funding Amount
$124,676.00
Summary
Prospective cohort study investigating progression measures in patients with hereditary spastic paraplegia including clinical phenotype, severity rating scales, motor evoked potentials and diffusion tensor imaging. These measures will be correlated with genotype using whole genome sequencing and measures of economic impact from this condition.
Determinants And Impact Of Patient-Centred Health Outcomes In Psoriatic Arthritis
Funder
National Health and Medical Research Council
Funding Amount
$84,069.00
Summary
Psoriatic arthritis is a chronic joint disease which is linked with the skin condition called psoriasis. People who have psoriatic arthritis can develop deformities in their joints and suffer from decreased quality of life. Psoriatic arthritis can present in a wide range of ways, but the reasons for this are not understood. This research aims to explain some of this variation and to predict which patients will develop more severe disease so treatment can be targeted to improve their outcome.
Epidemiology And Management Of Bronchiectasis In Australian Adults
Funder
National Health and Medical Research Council
Funding Amount
$124,676.00
Summary
Bronchiectasis is an incurable lung disease which causes chronic cough with phlegm. We do not know how many Australians have bronchiectasis or how it affects their lives, and there are few effective treatments. The recently launched Australian Bronchiectasis Registry collects comprehensive information on Australians with bronchiectasis. This project will use this information to start to answer these questions, and will investigate nebulised hypertonic saline as a cheap and accessible treatment.
The Effect Of Α-actinin 3 Deficiency On Regulation Of Skeletal Muscle Mass In Health And Disease.
Funder
National Health and Medical Research Council
Funding Amount
$84,800.00
Summary
A common genetic variant results in absence of the fast muscle fibre protein ?-actinin-3 in more than one billion humans worldwide. Loss of ?-actinin-3 influences elite athletic performance, muscle bulk and strength in the general population, and disease severity in muscle wasting conditions. The goal of this study is to understand how ?-actinin-3 regulates muscle mass so that individuals at increased risk of muscle wasting may be identified and treated accordingly.
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