Garvan researchers shine across Australia
Simon Hardwick, Mark Pinese, Qian Du & Clare Puttick
10 November 2017
The work of Garvan Institute researchers from across several research Divisions and the Kinghorn Centre for Clinical Genomics was commended with five awards at two interstate conferences last week.
Warm congratulations to Qian Du, who received the Young Investigator Award at Epigenetics 2017, the biennial meeting of the Australian Epigenetics Alliance (AEpiA), in Brisbane; and to Dr Mark Pinese, Simon Hardwick, Clare Puttick and James Ferguson, who received awards at the annual conference of the Australasian Genomic Technologies Association (AGTA) in Hobart.
Qian Du, Genomics and Epigenetics Division: Young Investigator Award, Epigenetics 2017
In her presentation, entitled ‘DNA replication timing shapes the cancer epigenome,’ Ms Du described her investigations into the timing of DNA copying (replication) in cancer cells. She presented recent findings that show, for the first time, that this timing affects the pattern of molecular labels (epigenetic marks) that are added to the DNA across the genome in prostate cancer cells, and that this may contribute to changes in gene expression in cancer.
Dr Mark Pinese, Cancer Division: Best Early Career Researcher Talk Award, AGTA
Dr Pinese presented his latest work in a talk entitled ‘The Medical Genome Reference Bank – Genomics of a disease-depleted, elderly Australian cohort.’ The Medical Genome Reference Bank (MGRB) houses genomic data from healthy elderly Australians, and is the largest cohort of this kind in the world, with over 3000 genomes sequenced to date. Dr Pinese reported his team’s recent discovery of patterns of complex genetic variation in this population, and discussed how he has addressed the technical challenges that arise in a genomics study of this scale.
Simon Hardwick, Neuroscience Division: Best Student Talk Award, AGTA
Mr Hardwick gave a talk entitled ‘Spliced synthetic genes as internal controls in RNA-Seq,’ and discussed his lab’s development of ‘Sequins’ - synthetic DNA sequences that can be used to better map and analyse complexity within the human genome. Mr Hardwick was also the recipient of an AGTA Travel Award, which supported his attendance at the meeting.
Clare Puttick, Kinghorn Centre for Clinical Genomics: Best Poster Presentation Award – Student, AGTA
In her poster presentation entitled ‘ROHmer: A tool to identify Run of Homozygosity in whole genome sequencing data,’ Ms Puttick described the development of ‘ROHmer,’ a bioinformatics tool developed to help find clinical diagnoses by performing complex genomic analysis of specific DNA regions that are more likely to contain particular types of genetic mutation. She presented examples of how ROHmer has helped obtain diagnoses for patients in her research projects.
James Ferguson, Kinghorn Centre for Clinical Genomics: Late-Breaking Poster Award, AGTA
Mr Ferguson presented a new method of exploring gene expression in single cells, in a poster entitled ‘Unsupervised demultiplexing of single-cell barcodes from raw Nanopore sequencing data.’ The new method more than doubles the amount of informative data from these technologies, enabling more efficient observation of entire molecules within single cells.