I am a clinician-scientist and endocrinologist most interested in clinical problems associated with bone, in particular the highly heritable disease of osteoporosis. I hope by studying genetic determinants of bone mass to determine the key genes involved, with the long term aim of informing the development of novel therapies for this common, painful and disabling disease.
Discovering And Targeting Genes Regulating Skeletal Muscle Function, Metabolism, And Adaptations To Exercise Interventions
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Muscle wasting and decreased in mitochondrial function due to ageing or lack of physical activity are associated with reduced quality of life. The overarching aim is to develop a unique research program focusing on targeting specific genes, and to discover novel genes regulating muscle wasting and mitochondrial (dis)function. I anticipate this approach to assist in the development of targeted and personalised prevention and therapy for diseases associated with muscle (dis)function.
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.
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.