Statistical Methods For Identifying Structural Variation In Tumour Genomes Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$243,458.00
Summary
New DNA sequencing technology can sequence a tumour genome affordably in 2 weeks. This re-sequencing data can be used to find small mutations and large-scale chromosomal rearrangements that together are the drivers of cancer. These may one day be used to guide cancer therapy. This project will develop new algorithms for finding mutations and apply these to discover the genetic basis of drug resistance in a model lymphoma system.
Role Of Brm In Skin Tumour Progression From Benign To Malignant
Funder
National Health and Medical Research Council
Funding Amount
$457,267.00
Summary
Australia has the highest incidence of skin cancer in the world. Skin cancer is 3 times as common as all other cancers combined and continues to increase in incidence, particularly in the aging population. Skin cancer is caused by exposure to the ultraviolet radiation found in sunlight. Ultraviolet radiation causes the appearance of solar keratosis, or sunspots, benign lesions that are not particularly dangerous to human health. Some of these develop into malignant squamous cell carcinomas that ....Australia has the highest incidence of skin cancer in the world. Skin cancer is 3 times as common as all other cancers combined and continues to increase in incidence, particularly in the aging population. Skin cancer is caused by exposure to the ultraviolet radiation found in sunlight. Ultraviolet radiation causes the appearance of solar keratosis, or sunspots, benign lesions that are not particularly dangerous to human health. Some of these develop into malignant squamous cell carcinomas that can spread to other tissues and are potentially fatal. Little is known about the biological mechanisms involved in solar keratosis development into squamous cell carcinomas. We have identified the gene brm as being involved in this process. It has not previously been recognised that this gene is important for skin cancer development and therefore our preliminary studies have identified a potential new target. We will study the role of this gene in ultraviolet radiation induced skin carcinogenesis, determine whether it is mutated by ultraviolet radiation in human skin cancer, and what role in plays in some key biological processes in skin cancer development. This study will expand our understanding of malignant conversion during human skin carcinogenesis, the most prevalent human cancer in Australia.Read moreRead less
Evaluation Of The Efficacy Of The Australian Mammographic Screening Program
Funder
National Health and Medical Research Council
Funding Amount
$504,096.00
Summary
BreastScreen Australia uses interim measures such as participation, small cancer detection and interval cancer rates to monitor the impact of the program on mortality. Using BreastScreen Victoria as a case study, we will estimate the direct impact of the program on mortality for screened women, addressing Cancer Australia's priority of 'Improving screening program outcomes to ensure that patients can be identified and treated appropriately and ensuring that screening services are effective'.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Early Detection Of Infants And Young Children With Autism
Funder
National Health and Medical Research Council
Funding Amount
$268,250.00
Summary
Autism is a severely handicapping condition adversely affecting social interaction, communication, behaviour, interests, and activities. Autism requires treatment at an early age (before 4 years). Despite finding that parents notice problems with their child's development within the first 2 years, on average diagnoses are made around 6 years of age. Treatment for autism should begin as early as possible to improve outcome. Diagnosis requires specialist assessment and these services are limited. ....Autism is a severely handicapping condition adversely affecting social interaction, communication, behaviour, interests, and activities. Autism requires treatment at an early age (before 4 years). Despite finding that parents notice problems with their child's development within the first 2 years, on average diagnoses are made around 6 years of age. Treatment for autism should begin as early as possible to improve outcome. Diagnosis requires specialist assessment and these services are limited. Therefore it is not possible to undertake such assessments with all children who have developmental problems. This project therefore proposes to evaluate a method for screening large populations of children for autism, thus enabling timely and more appropriate referral to assessment services. Previous work by the investigators has developed a potential screening tool (DBC Early Screen) for autism in young children under 4 years with developmental delay that has high levels of accuracy in identifying those infants and children who are at risk of autism and require specialist assessment. This project proposes to undertake a community field trial to assess the accuracy and reliability of this early screen and to establish its suitability for wide use as a population screening tool. The preliminary testing of DBC Early Screen demonstrated that a community field trial was feasible. The results of this study will facilitate the referral of infants and young children to specialist autism assessment services, thus enabling the commencement of appropriate early intervention for children and their families from an early age.Read moreRead less
Evaluation Of An Instrument For Management Of Behavioural And Psychological Symptoms Of Dementia.
Funder
National Health and Medical Research Council
Funding Amount
$598,468.00
Summary
Behavioural and Psychological Symptoms of Dementia (BPSD) distress the patient and others. The behaviours, and not the underlying causes, are often treated with antipsychotics, despite side effects and low efficacy. An assessment instrument for care staff to determine and address causes of BPSD will be implemented. We predict training will reduce inappropriate prescribing and other reasons for distress. Where medication is required, detailed information will assist more targeted prescribing.
The Effectiveness Of An Indicated Prevention Program For Anxiety
Funder
National Health and Medical Research Council
Funding Amount
$867,982.00
Summary
Generalised anxiety disorder (GAD) is a common disorder. In this research project, we evaluate the effectiveness of a new automated Internet program which is designed to reduce the risk of GAD and to promote self help. If found to be effective, this website will provide assistance to those at risk living in rural and remote areas without access to other resources, and individuals who prefer to seek help anonymously.
The Diagnosis Of Obstructive Sleep Apnea In Primary Care
Funder
National Health and Medical Research Council
Funding Amount
$295,075.00
Summary
The gold standard method for diagnosis of sleep apnea is the overnight sleep study. These tests are expensive, have long waiting lists and are hard to access outside larger cities. We aim to determine if general practitioners can combine information from questionnaires and a simple home diagnostic test, to confirm or rule out sleep apnea. The results of this study will eventually lead to more accessible and efficient diagnosis and treatment of this common condition.
Comprehensive Assessment Of Genetic And Environmental Risk Factors For Melanoma: A Population-based Family Study
Funder
National Health and Medical Research Council
Funding Amount
$150,679.00
Summary
Excessive sunlight can cause melanoma, a serious type of skin cancer. However, there are other factors including a person's genetic make-up that are thought to put some people at higher risk. Many 'healthy' people have small changes in their genes that might make them more likely to develop melanoma. We need to know more about these genetic factors. Our study will investigate how particular small genetic changes influence a person's likelihood of developing melanoma.