A Subphenotyping Approach To Identifying Genes Responsible For Isolated Clefts Of The Lip And Palate.
Funder
National Health and Medical Research Council
Funding Amount
$679,707.00
Summary
Clefts of the lip and palate are the most common birth defects involving the face. The genes responsible for these conditions have been difficult to find in the past. We have identified a method through which the chances of finding these genes is greatly increased. Detailed measurements of a number of facial features in cleft patients and unaffected first-degree relatives will provide a much clearer picture of those at higher risk of being affected by this debilitating disorder.
Gene Identification In Familial Orofacial Clefts By Genomic Technologies
Funder
National Health and Medical Research Council
Funding Amount
$565,181.00
Summary
Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique t ....Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique that analyses all human genes.Read moreRead less
Understanding The Regulation Of Craniofacial Development Through Control Of Chromatin And Gene Transcription
Funder
National Health and Medical Research Council
Funding Amount
$616,372.00
Summary
Cleft lip and palate are among the most common birth defects. Key genes regulating palate development are sensitive to disturbance by environmental factors. We use this system to comprehensively determine a molecular pathway that is at the interface between the environment and gene transcription. Knowledge gained in the project will draw a framework for our understanding of how environmental insults affect chromatin configuration and gene expression and will inform the basis of measures to preve ....Cleft lip and palate are among the most common birth defects. Key genes regulating palate development are sensitive to disturbance by environmental factors. We use this system to comprehensively determine a molecular pathway that is at the interface between the environment and gene transcription. Knowledge gained in the project will draw a framework for our understanding of how environmental insults affect chromatin configuration and gene expression and will inform the basis of measures to prevent birth defects.Read moreRead less
Highly multiplexed rapid-analysis microarrays for early disease diagnosis. Molecular diagnostics are revolutionising the treatment of disease in hospitals by providing rapid and accurate identification of pathogens; saving costs, time and lives. This project will accelerate this revolution by combining new array technology from the University of Sydney with a proven multiplex method from the Sydney based company, AusDiagnostics.