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L1 Retrotransposition In Human Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$414,085.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in the human genome. Previously thought to represent ñjunk DNAî, retrotransposons are increasingly being found to play important roles in biology. This fellowship will allow Dr Faulkner to research the consequences of retrotransposons being active in the body during development, and in adulthood, as a potential cause of cancer.
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.
Massive Parallel Sequencing In The Genetics Of Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological m ....Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.Read moreRead less
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.
Improving Bioinformatic Methods For Studying Gene Regulation In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$463,652.00
Summary
New methods for analysing genome-wide data will be developed to ease the data analysis bottleneck that currently exists in medical research. Modelling variation in gene expression from single cells, in screens designed to uncover gene function and assays that measure the factors that turn genes on or off will be the focus. Free software will be developed and made available to researchers worldwide to help them interpret the large and complex data sets that are now routine in genomic medicine.
Coordination Of The Fanconi Anemia Pathway To Maintain Genome Stability
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Fanconi anaemia is a heritable disorder where bone marrow failure occurs on average at age seven and is the major cause of death at around age 20. Many patients also develop leukaemia, representing another overwhelming hurdle in their youth. The incorrect function of any one of 19 proteins can lead to Fanconi anaemia. We will search for a drug that can compensate for the absence of one of these proteins to allow correct function of the other proteins offering possible leads for treatment.
Discovery, Preclinical And Translational Research In Endometrial Cancer
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
My research program is focused on “bench to bedside” translational research in uterine cancer. Specifically, identifying the genetic aberrations underlying the development of uterine cancer, understanding the function of these genes in normal and cancer cells, providing proof of principle data that drugs targeting these defective proteins induce cancer cell death in vitro and in vivo and identifying factors associated with whether a patient will respond to one particular treatment over another.
Recently Acquired Hepatitis C Infection: Insights From Virological, Therapeutic And Epidemiological Studies
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
Every year around 10,000 new cases of hepatitis C (HCV) infection occur within Australia, most of which are undiagnosed. Reasons for this include a lack of public awareness about the benefits of treatment at this stage. As new antiviral agents become available it is likely that therapy for recent HCV will become even easier and more successful. The aim of this research is to explore HCV transmission patterns, treatment strategies and long term health outcomes in people with recent HCV.
Development And Application Of A Novel Technology, CaptureSeq, To Focus Sequencing To Discover Genes In ‘empty’ Genomic Regions Associated With Disease.
Funder
National Health and Medical Research Council
Funding Amount
$421,747.00
Summary
Dr. Mercer will develop a new technology, CaptureSeq that is able to focus RNA sequencing on targeted regions of interest. This focus gives CaptureSeq an unprecedented sensitivity to discover new genes and regulatory elements in regions of the genome that have been associated with disease but are otherwise barren and empty. This project will thereby uncover both new genes candidates for further disease research and develop a technology with unique and widespread research and clinical potential.