Chromosomes are structures that carry genes in all our cells. Every human cell has 46 chromosomes. In the nucleus of eukaryotic cells, DNA is highly folded and compacted with specific proteins into a dynamic polymer called chromatin. Gene expression, chromosome division, DNA replication, and repair all act, not on DNA alone, but on this chromatin template. The discovery that enzymes can (re)organise chromatin into accessible and inaccessible configurations revealed mechanisms that considerably e ....Chromosomes are structures that carry genes in all our cells. Every human cell has 46 chromosomes. In the nucleus of eukaryotic cells, DNA is highly folded and compacted with specific proteins into a dynamic polymer called chromatin. Gene expression, chromosome division, DNA replication, and repair all act, not on DNA alone, but on this chromatin template. The discovery that enzymes can (re)organise chromatin into accessible and inaccessible configurations revealed mechanisms that considerably extend the information potential of the genetic code. In addition, it is now established that chromatin structural features can influence gene expression. In vitro studies support a model in which chromatin functions as a barrier for the access to DNA. Therefore this organization has to be tighly regulated and dynamic to allow the protein-DNA interactions critical for nuclear functions. Importantly genome organisation provides in addition to genetic information another layer of information, so called epigenetic, which by definition means that it is stably inherited throughout cellular divisions, yet it is not encoded genetically. Thus each cell type will display a specific epigenome. We have recently constructed small human minichromosomes, which are much easier to study than the much larger normal chromosomes. The present project proposes to define the epigenetic feature across an entire human chromosome using our minichhromosomes as working models. The outcome will be a significant gain in our knowledge on the processes underlying epigenetic regulation, the organisation of specialised chromatin domain, and behaviour of the chromosomes.Read moreRead less
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.
Smoking Cessation For Youth Project Booster And Cohort Tracking Study
Funder
National Health and Medical Research Council
Funding Amount
$135,550.00
Summary
Adolescence is a critical period for the establishment of adult drug use behaviours. If smoking does not commence in teenage years it is unlikely to occur. This innovative project not only continues to address tobacco control with this important age group but also builds on evidence from a randomised intervention trial involving over 4,000 Year 9 students tracked over two years. This project was called the Smoking Cessation for Youth Project (SCYP). Preliminary longitudinal analyses of the SCYP ....Adolescence is a critical period for the establishment of adult drug use behaviours. If smoking does not commence in teenage years it is unlikely to occur. This innovative project not only continues to address tobacco control with this important age group but also builds on evidence from a randomised intervention trial involving over 4,000 Year 9 students tracked over two years. This project was called the Smoking Cessation for Youth Project (SCYP). Preliminary longitudinal analyses of the SCYP data indicate that the intervention students were significantly less likely to smoke heavily (smoking five or more days per week) than the control group and that intervention students were also significantly less likely to have tried smoking than the control group. These results represent a world first in evidence that population-based smoking cessation interventions among teenagers can be successful. The proposed project will determine the extent to which these positive intervention effects are sustainable, two years post intervention, as our cohort moves into Year 12. In addition to tracking the possible decay of SCYP intervention effects, the proposed project will also measure the effects of a booster intervention delivered students when they are in Year 12 (2002). The Year 12 intervention will comprise an innovative self-help 'magazine style' booster and a supportive environmental intervention involving school nurses and local GPs. This proposal represents a cost-effective opportunity to measure the effectiveness of a Year 12 tobacco cessation booster intervention. Further data on tobacco smoking behaviour in 2002 will also enable us to determine how long the SCYP intervention appears to affect behaviour and whether 'boosters' are needed in later secondary school years to maintain the benefits.Read moreRead less