Chromatin Dynamics As A Driver Of Disease Initiation And Development
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Epigenetic programming ensures that the right genes are expressed in the right amount, in the right cell type at the right time. Our OVERALL AIM is to identify how this programming is altered in certain cancers and dementias and to determine whether this is a cause or driver of disease. This study has great potential to identify the epigenetic marks that will be the best targets for new therapies.
Understanding Gene Regulation In Disease Using High Throughput Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
While genetics refers to the gene sequence, or DNA code, epigenetics refers to all the other factors that control how and when each gene is expressed. New technologies with the ability to sequencing billions of bases of DNA are now being used to study epigenetics. However the data sets are vast and complex. I use statistical and computational approaches in the emerging field of bioinformatics to make sense of this data and relate genome wide disruption of epigenetic marks to diseases.
Screening And Characterisation Of Mammalian Epigenetic Modifiers
Funder
National Health and Medical Research Council
Funding Amount
$470,143.00
Summary
All the information to form an adult is contained in the DNA of the fertilized egg. Development is achieved by turning genes on and off, controlled by proteins called epigenetic modifiers. Sometimes this fails, leading to disease. Despite their vital role, we have data on just 20% of the potential epigenetic modifiers in humans. I will use novel screen-based technology to find hundreds more, to enable us and others to characterise the role of epigenetics in normal development and disease.
Significance Of Low-level Mosaicism To Intellectual Disability In Paediatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$483,402.00
Summary
My vision for the next 4 years is to improve outcomes for children and their families with inherited disorders associated with intellectual disability (ID) and autism through earlier diagnosis and intervention. This is of great importance with annual costs of ID close $14.72 billion to the Australian health system, and missed or delayed diagnoses being a significant problem, as ID is found in 1.7% of births, where a specific cause is currently identified in less than half.
The Role And Underlying Mechanisms Of Constitutional Epigenetic Silencing In Cancer Predisposition
Funder
National Health and Medical Research Council
Funding Amount
$218,617.00
Summary
Familial and young onset bowel and uterine cancer are usually caused by the inheritance of spelling mistakes in the genetic code within a set of cancer-protection genes. Recently, some patients were identified with their gene switched off by paralysing chemicals instead. This study aims to identify additional cancer cases with gene paralysis, determine if this arises in the presence or absence of a genetic change in front of the gene, and how gene paralysis is transmitted to the next generation.
Genetics Of DNA Methylation And Its Role In Disease Susecptibility
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
DNA methylation is a chemical modification to DNA that sits on the interface of an individual's genetics and environment, which is critical for regulating many cellular processes. There is increasing evidence for a major role of variation in DNA methylation in development of disease and it provides a potential therapeutic target. This research will fill fundamental gaps in our knowledge of the genetic and environmental control of differences in levels of DNA methylation in the population.