Pathogenesis Of Rett Syndrome: Molecular Genetics And Animal Models
Funder
National Health and Medical Research Council
Funding Amount
$437,310.00
Summary
Rett syndrome (RS) is a devastating progressive genetic disorder affecting motor and intellectual development, and occurs almost exclusively in females. It is characterised by normal development for the first 6-12 months of life, followed by developmental regression with the loss of learned purposeful hand function, loss of acquired speech and communicative abilities, sometimes leading to the incorrect diagnosis of autism. It may be the most common cause of progressive mental retardation in girl ....Rett syndrome (RS) is a devastating progressive genetic disorder affecting motor and intellectual development, and occurs almost exclusively in females. It is characterised by normal development for the first 6-12 months of life, followed by developmental regression with the loss of learned purposeful hand function, loss of acquired speech and communicative abilities, sometimes leading to the incorrect diagnosis of autism. It may be the most common cause of progressive mental retardation in girls, with an estimated prevalence in Australia of 1 per 10,000 females under the age of twelve years. Mutations in a gene called MECP2 appears to be the cause of RS in up to 80% of affected girls and women. Now that the gene responsible for many cases of RS has been found, there are many new questions. Do all girls with RS have mutations in the MECP2 gene? Will knowing the exact mutation in the MECP2 gene be of help in predicting how severe the disorder will be in individual patients? Why is it that the brain appears to be primarily affected? Which other genes might play a role in the symptoms seen in RS? Could it be possible to develop specific treatments for RS? This research will address a number of important issues. Firstly, our genetic studies of RS subjects will result in early diagnosis, which is often delayed until after a child turns 5 years of age. Secondly, we are developing mouse models of the human disease, which will put us in a much better position in beginning to understand the biological basis of RS. Early diagnosis may enable the initiation of early treatment strategies in the short term, with the long-term goal of developing specific therapies that may potentially cure the disorder. Finally it will enable accurate genetic counselling for both the immediate and extended family members.Read moreRead less
The Role Of Transcriptional Co-activators And Co-repressors During Embryonic Development
Funder
National Health and Medical Research Council
Funding Amount
$82,421.00
Summary
Every creature starts out as a single fertilized egg. The genome directs the embryonic development of the egg by regulating the expression of genes each of which must be turned on or off at the correct time and place. This essential balance between the activation or repression of genes is controlled by groups of proteins, including ‘transcriptional co-activators’ and ‘repressors’. This project aims to better understand the role of these proteins during embryonic development.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0347245
Funder
Australian Research Council
Funding Amount
$630,000.00
Summary
Functional Genomics Analysis - linking a multicentred facility. The aim of this project is to enhance and network the functions and activities of the Clive and Vera Ramaciotti Centre for Gene Function Analysis (CGRCGFA), a joint venture that services five major universities in the Sydney-Newcastle area. This application is for equipment that will improve the speed of DNA analyses, and for a laboratory information management system that will standardise the handling of data and sample information ....Functional Genomics Analysis - linking a multicentred facility. The aim of this project is to enhance and network the functions and activities of the Clive and Vera Ramaciotti Centre for Gene Function Analysis (CGRCGFA), a joint venture that services five major universities in the Sydney-Newcastle area. This application is for equipment that will improve the speed of DNA analyses, and for a laboratory information management system that will standardise the handling of data and sample information at all nodes of the CVRCGFA.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0232455
Funder
Australian Research Council
Funding Amount
$545,000.00
Summary
The Molecular Analysis of Variation and Gene Function. The aim of this project is to establish the nodes of the Clive and Vera Ramaciotti Centre for Gene Function Analysis (CVRCGFA) which is a joint venture that serves the five major universities and three Institutes in the Sydney-Newcastle region. The primary focus of this application is to create new facilities at the hubs of CVRCFGA that are integral to the analysis of molecular variation in a range of organisms. The study of molecular vari ....The Molecular Analysis of Variation and Gene Function. The aim of this project is to establish the nodes of the Clive and Vera Ramaciotti Centre for Gene Function Analysis (CVRCGFA) which is a joint venture that serves the five major universities and three Institutes in the Sydney-Newcastle region. The primary focus of this application is to create new facilities at the hubs of CVRCFGA that are integral to the analysis of molecular variation in a range of organisms. The study of molecular variation will enable researchers to understand better how organisms interact with each other, how they respond to environmental stress and aid in the identification of complez traits.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0453724
Funder
Australian Research Council
Funding Amount
$532,824.00
Summary
Functional Genomics - Linking Genomics and Proteomics. This application is to enhance the capacity of the Ramaciotti Centre for Gene Function Analaysis (RCFGA) and its Nodes to support research in Functional Genomics by expanding its ability to link genomic analysis (including transcriptomics) with proteomic and cell biological analysis. It will provide access to novel methods for analysing interactions of proteins with other molecules by enabling the manufacture of protein arrays as well as DN ....Functional Genomics - Linking Genomics and Proteomics. This application is to enhance the capacity of the Ramaciotti Centre for Gene Function Analaysis (RCFGA) and its Nodes to support research in Functional Genomics by expanding its ability to link genomic analysis (including transcriptomics) with proteomic and cell biological analysis. It will provide access to novel methods for analysing interactions of proteins with other molecules by enabling the manufacture of protein arrays as well as DNA microarrays and to analyse the data obtained from them. This is a vital component to maintain gene function analysis at the cutting edge of current technology.Read moreRead less
Use of Gradipore technology to develop novel methods for the preparation and segregation of mammalian spermatozoa. The purpose of this project is to harness the expertise available within an Australian biotechnology company, Gradipore, to develop novel methods for the preparation of mammalian spermatozoa and the segregation of these cells into X-and Y- bearing populations. This technology will find application in: (1)clinical andrology, where rapid, safe protocols for the preparation and segrega ....Use of Gradipore technology to develop novel methods for the preparation and segregation of mammalian spermatozoa. The purpose of this project is to harness the expertise available within an Australian biotechnology company, Gradipore, to develop novel methods for the preparation of mammalian spermatozoa and the segregation of these cells into X-and Y- bearing populations. This technology will find application in: (1)clinical andrology, where rapid, safe protocols for the preparation and segregation of human spermatozoa are being actively sought in the context of assisted conception and the management of sex-linked genetic diseases and (2) agriculture, particularly the cattle industry, where a capacity to predetermine the sex of the offspring would be extremely valuable.Read moreRead less
I am a developmental biologist who identifies and characterises genes required for normal embryonic development in mouse. I translate this information into the genetic diagnosis and developmental understanding of congenital malformations in humans.
Mouse models for the identification of factors involved in muscle adaptation. The ability of muscle to adapt to meet functional demands is essential for mobility in normal daily life, in ageing well, in individuals with muscle diseases and nerve damage and in athletes. The ability of muscle to change its cellular composition is desirable for the livestock industry. Knowledge of how genes in muscle cells are regulated to adapt to demands has significant implications for public health and economic ....Mouse models for the identification of factors involved in muscle adaptation. The ability of muscle to adapt to meet functional demands is essential for mobility in normal daily life, in ageing well, in individuals with muscle diseases and nerve damage and in athletes. The ability of muscle to change its cellular composition is desirable for the livestock industry. Knowledge of how genes in muscle cells are regulated to adapt to demands has significant implications for public health and economic benefits. We have devised model systems that will allow us to identify the regulators of these genes in order to develop therapies to combat these changes in ageing and damaged muscle, to improve the quality of meat and optimise sport performance.Read moreRead less
A new paradigm of gene regulation - implications in embryogenesis and disease. The proposed analysis of a new paradigm of gene regulation will provide a new key to understanding genome function and inform some of the most compelling biological issues of our time such as stem cell biology, tissue and organ regeneration and genetic programming. The insights and technologies developed in this program will be widely applicable in biotechnological and pharmacogenomic research in Australia and worldwi ....A new paradigm of gene regulation - implications in embryogenesis and disease. The proposed analysis of a new paradigm of gene regulation will provide a new key to understanding genome function and inform some of the most compelling biological issues of our time such as stem cell biology, tissue and organ regeneration and genetic programming. The insights and technologies developed in this program will be widely applicable in biotechnological and pharmacogenomic research in Australia and worldwide, and assert Australia's leadership in this area of research.Read moreRead less