Scientific Program

• Day One
  Sunday 11 March
• Day Two
  Monday 12 March
• Day Three
  Tuesday 13 March
• Day Four
  Wednesday 14 March

JOINT HUGO RCPA MEETING

0800 - 0845	Registration	Registration will also be available on Sat 10th March via RCPA desk
0830 - 0900	Welcome to Country and Welcome from HUGO President
0900 - 1030	Joint Session RCPA - HUGO Somatic cell cancer genetics: International Cancer Genome Consortium Chair 1: Warwick Anderson (NHMRC) Chair 2: Patrick Tan (Singapore) 0900 - 0945 New challenges in cancer genomics John McPherson (Canada) 0945 - 1030 The genomic landscape of pancreatic cancer: From discovery to patient care Andrew Biankin (Australia)
1030 - 1100	Morning tea
1100 - 1230	Joint Session RCPA – HUGO Epigenetic mutations in cancers Chair 1: Melody Caramins (Australia) Chair 2: Emma Whitelaw (HUGO) 1100 – 1145 Colorectal cancer: A model for genome, epigenome and environmental interactions Robyn Ward (Australia) 1145 – 1230 The cancer methylome Peter Laird (USA)
1230 - 1400	Lunch	1245 - 1330 Illumina session Illumina MiSeqTM and Amplicon-Based Next Generation Sequencing of Solid Tumour Samples in the Clinical Laboratory Andrew Fellowes PhD FHGSA FFSc(RCPA) – Scientist in Charge – Molecular Pathology Diagnostic Development Peter MacCallum Cancer Centre
1400 - 1530	Joint Session RCPA HUGO Complexity analysis and computational biology Chair 1: Graeme Suthers (Australia) Chair 2: Niranjan Nagarajan (Singapore) 1400 – 1445 Evolution of structural variation and its functional impact Evan Eichler (USA) 1445 – 1530 Understanding dynamic cellular responses by analysis of protein interaction networks Mark Wilkins (Australia)
1530 - 1630	Human Genome Meeting 2012 and Pathology Update 2012 High Tea
1630 - 1830	Joint Session RCPA HUGO Genetics & genomics of personalised medicine - infectious disease, metagenomics & microbial genomics Chair 1: Philip Hugenholtz (Australia) Chair 2: Michael Rossbach (Singapore) 1630 – 1715 Genomic approaches to antibiotic resistance and development in Melioidosis Patrick Tan (Singapore) 1715 – 1800 Nutritional immunology: A multi-dimensional approach Stephen Simpson (Australia) 1800 – 1830 Round table discussion
1830 – 2130	X Prize Working Meeting	1845 – 1930 Roche Diagnostics Australia session Deep HIV-1 sequencing: from bench to bedside Roger Paredes MD, PhD. – Institut de Recerca de la SIDA - irsiCaixa

0730 - 0815	Droplet digital PCR – A Breakthrough In Genetic Analysis Principles of Droplet Digital™ PCR Rachel Scott – Senior Product Manager Bio-Rad Laboratories Applications of Droplet Digital™ PCR Ben Hindson – Senior Principle Scientist and Co-Inventor of ddPCR™ Bio-Rad Laboratories
0830 - 1030	Plenary Genetics and genomics of personalised medicine - common disorders Chair 1: Ingrid Winship (Australia) Chair 2: Mark McCarthy (HUGO) 0830 – 0910 Genetic testing in complex disease David Evans (UK) 0910 – 0950 Finding diamonds in the dirt: Turning genetic discoveries into biological insights and translational opportunities Mark McCarthy (UK) 0950 – 1030 Genetic epidemiology of common diseases: The role of common, rare and ethnic specific variants Matthew Brown (Australia)
1030 - 1100	Morning tea
1100 - 1300	Working Summit Ethics, society and law: Imagined futures Chair 1: Don Chalmers (Australia) Chair 2: Ruth Chadwick (UK) 1100 – 1140 Great expectations, disruptive innovations and interactive research 2.0: Why the societal embedding of personalised medicine in a globalised life-world requires a continuation and even intensification of collaborations between life sciences, social sciences and humanities Hub Zwart (Netherlands) 1140 – 1220 Decision making in the age of genetics: Legal and ethical perspectives Belinda Bennett (Australia) 1220 – 1300 Imagined futures: Capturing the benefits of genome sequencing for society Ellen Clayton (USA)	Symposium Human variation & human genetic history Chair 1: Bing Yu (Australia) Chair 2: Felix Li Jin (HUGO) 100 – 1140 Human population admixture, history abd local adaptation in Central and Southeast Asia Shuhua Xu (China) 1140 – 1220 Accurately identifying structural genomic variation in human genomes Charles Lee (USA) Chen Award Recipient: New Investigator Award 1220 – 1300 Human demographic and selective history in Polynesia Manfred Kayser (Netherlands)	OECD / HUGO Working Summit Delivering economic value from synthetic biology: Current challenges and opportunities Chair 1: G Jimenez Sanchez (Mexico) Chair 2: Robert Wells (OECD) 1100 – 1130 Genomics and the bioeconomy : The case of synthetic biology Gerardo Jimenez-Sanchez (Mexico) 1130 – 1200 Synthetic biology: Biological hurdles and breakthrough solutions Jim Haseloff (UK) 1200 – 1230 Infrastructure challenges to synthetic biology Gos Micklem (UK) 1230 – 1300 Moving from the research lab to industry David Cox (USA)
1230 - 1400	Lunch	X Prize Chair 1: Juergen Reichardt (Australia) Chair 2: Mark McCarthy (UK) Setting standards for medical grade whole genome sequencing: The validation protocol of the Archon Genomics X Prize Larry Kedes (USA)
1400 - 1600	Symposium Genomics of neurological and neuropsychiatric disorders Chair 1: Grant Sutherland (Australia) Chair 2: Stephen Scherer (HUGO) 1400 – 1440 Genetic architecture of psychiatric disorders and implications for genomic medicine Peter Visscher (Australia) 1440 – 1520 Copy number variation, exome sequencing and the variability in neurological disease Evan Eichler (USA) 1520 – 1600 Identification of Sialyltransferase 8B as a generalised susceptibility gene for psychotic and mood disorders on chromosome 15q25-26 Peter Schofield (Australia)	Working Summit Genetics, genomics & indigenous populations: Advancing the science without touching the sacred Chair 1: Shane Houston (Australia) Chair 2: Ngiare Brown (Australia) 1400 – 1430 Rebuilding our nations through biobanking: Research and reproductive health revitalisation strategies of indigenous peoples Maile Tualii (Hawaii) 1430 – 1500 Development of guidelines and frameworks for engaging Maori populations in genetic research Maui Hudson (New Zealand) 1500 – 1600 Round table discussion	OECD / HUGO Working Summit cont. Delivering economic value from synthetic biology: current challenges and opportunities. Chair 1: G Jimenez Sanchez (Mexico) Chair 2 : Robert Wells (OECD) 1400 – 1440 Challenges in intellectual property Hon. Annabelle Bennett (Australia) 1440 – 1520 Unlocking economic value in synthetic biology: Challenges and opportunities Richard Johnson (OECD) 1520 – 1600 Bootstrapping synthetic biology: The Amyris story from university to public company Joel Cherry (OECD)
1600 - 1630	Afternoon tea
1630 -1830	Plenary Genetics & genomics of personalised medicine - from basic to clinic to back to basics Chair 1: Grant Sutherland (Australia) Chair 2: David Cox (HUGO) 1630 – 1730 Found in Translation: New insights into the pathogenesis and treatment of Marfan syndrome and related disorders Hal Dietz (USA) 1730 – 1830 Risk factors for autism: Translating genomic discoveries into diagnostics Stephen Scherer (Canada)
1830 - 2130	HUGO Council Meeting
1845 - 1930	Advancing molecular analysis and sequencing for a better world Expanding target sequencing capabilities with new SureSelect enhancements, updated exome content, and the introduction of Haloplex Scott Happe, Agilent Technologies Unraveling the new paradigm in the genetics of schizophrenia Simon Girard, University of Montreal Latest innovation and advancement in Oligo FISH technology Robert Schueren, Agilent Technologies	Pacific Biosciences session Sponsored Single-Molecule Real-Time Sequencing with the PacBio RS Dr. Stephen Turner – Founder and CTO, Pacific Biosciences	Thermo Fisher Scientific Sponsored session Kinome wide functional genomics screen of TNF alpha induced nuclear accumulation of HIF-1 alpha in cancer cells Jeffrey Haskins (USA)

0730 – 0830	HUGO Members’ Meeting
0830 - 1030	Plenary Genetics & genomics of personalised medicine - mendelian and highly penetrant disorders Chair 1 : Kevin Carpenter (HGSA) Chair 2: Aravinda Chakravarti (HUGO) 0830 – 0910 Personal genomes and medical genomics James Lupski (USA) 0910 – 0950 De novo mutations in intellectual disability and related syndromes Joris Veltman (Netherlands) 0950 – 1030 Strengths of genomic investigations in eye and developmental disease Robyn Jamieson (Australia)
1030 - 1100	Morning tea
1100 - 1300	Forum Rare diseases: International perspectives Chair 1: Kris Barlow-Stewart (Australia) Chair 2: Niranjan Nagarajan (Singapore) 1100 – 1140 Rare Diseases: International Perspective Anthony Brookes (UK) 1140 – 1220 Effort and expectation for rare disease patient’s better life in Taiwan Serena Wu (Taiwan) 1220 – 1300 Complete genome sequencing and SH3TC2 mutations causing CMT1 neuropathy James Lupski (USA)	Symposium Regulatory genetic variations Chair 1: Juergen Reichardt (Australia) Chair 2: Edison Liu (HUGO) 1100 – 1145 Adventures in personal omics: Omics profiling for assessing disease risk and health states Michael Snyder (USA) 1145 – 1230 RNA and DNA sequence differences in the human genome Vivian Cheung (USA) 1230 – 1300 Chen Award Lecture	Symposium: Personalised medicine and pharmacogenetics, pharmacogenomics Chair 1: Martin Kennedy (New Zealand) Chair 2: Y T Chen (Taiwan) 1100 – 1145 Translation of pharmacogenetics into the clinic: The immunogenetics example Elizabeth Phillips (Australia) 1145 – 1230 Pharmacogenomics of adverse drug reactions: Toward personalised and preventive medicine Y-T Chen (Taiwan) Oral presentations 1230 – 1245 Personalised medicine in clinical practice in Australia: CYP2D6 and CYP2C19 genotype frequencies determined in 1588 patients and illustration of their usefulness in clinical practice Les Sheffield 1245 – 1300 Antidepressant induced akathisia related homicides associated with diminishing mutations in metabolising genes of the CYP450 family Yolande Lucire
1300 - 1400	Lunch	1310 - 1355 Making medicine personal, from research to the clinic Genotyping analysis for health and complex disease research Rodney Scott , PhD, University of New Castle, Australia Preimplantation genetic diagnosis in the Genomics Era Brynn Levy, M.Sc. (Med), PhD - Director, Clinical Cytogenetics Laboratory, Columbia University
1400 - 1600	Thermo Fisher Symposium ncRNAs in biology and medicine Chair 1: John Christodoulou (Australia) Chair 2: Yoshihide Hayashizaki (HUGO/Japan) 1400 - 1445 Linking RNAs to human health and disease John Rinn (USA) 1445 – 1530 The landscape of mammalian transcriptome at various distinct cellular states Yoshihide Hayashizaki (Japan) Oral presentations 1530 – 1545 Expanding the genetic heterogeneity of primordial dwarfism Fowzan Alkuraya 1545 – 1600 Coordinated function of clustered miRNA in human disease: a case study in glioblastoma multiforme Arijit Mukhopadhyay	Selected Oral Presentations Chair 1: Martin Kennedy (New Zealand) Chair 2: Dhavendra Kumar (HUGO) 1400 – 1415 Why it is difficult to exclude isolated genes from patentability and why it may not really matter for whole genome sequencing Dianne Nicol 1415 – 1430 New aspects of TDP 43 self-regulation mechanisms and their connection with neurological disease Francisco Baralle 1430 – 1445 A mechanism for gene-environment interaction in the etiology of congenital scoliosis Sally Dunwoodie 1445 – 1500 Mirror phenotypes associated with 16p11.2 rearrangements Jacques Beckman 1500 – 1515 Identification of mutations in ARID1B, encoding the AT-rich interactive domain-containing protein 1B in a cohort of patients with a clinical diagnosis of Pierpont syndrome Paul Lockhart 1515 – 1530 A spike in the low level microsatellite instability (LL-MS) of peripheral blood leukocytes earmarks cancer onset in Lynch syndrome patients Allesandro Stella 1530 - 1545 Fc Gamma (FcG) receptor (FcGRIIIB) polymorphisms are associated with susceptibility to clinical malaria in Ghanaian children Bright Adu 1545 - 1600 Success of genome wide association studies in opthalmology David Mackey	Forum Human Variome Project Chair 1: Juergen Reichardt (Australia) Chair 2: Richard Cotton (Australia) 1400 – 1440 Genetic variant databases: optional extras vs. mandatory core facilities Graeme Suthers (Australia) 1440 – 1520 The Human Variome Project: Australian node Tim Smith (Australia) 1520 – 1600 The need for disease specific databases: HVP - InSiGHT collaboration Finlay Macrae (Australia)
1600 - 1630	Afternoon tea
1630 - 1830	Symposium Synthetic genetics: Gene-gene interactions & modifiers of mendelian disorders Chair 1: Matt Brown (Australia) Chair 2: Elspeth Bruford (HUGO) 1600 – 1645 Hirschsprung disease as a model oligogenic disorder Aravinda Chakravarti (USA) 1645 – 1730 The genetic architecture of ciliopathies Nicholas Katsanis (USA) Oral presentations 1730 – 1745 Low coverage whole exome sequencing of a large family with two different disorders of sex development revealed a novel three base pair deletion in steroidogenic factor-1 Andrew Sinclair 1745 - 1800 Reverse genetics investigation of large rare genomic structural variants Robin Walters	Working Summit: Translational science: Healthcare informatics Chair 1: Melody Caramins (Australia) Chair 2: Todd Taylor (HUGO) 1630 - 1715 Translational Science: Healthcare Informatics Anthony Brookes (UK) 1715 – 1800 Computational discovery – in silico methods for novel hypothesis generation and testing Enrico Coiera (Australia) Oral presentation 1800 – 1815 Automated high throughout analysis of personal genome sequences: towards clinical interpretation Francisco de la Vega	Working summit: Genomics and Regulatory Affairs Chair 1. Michael Murray (Australia) Chair 2: Cynthia Sung (Singapore) 1630 - 1710 Optimal use of pharmacogenomics: European regulatory and payer’s perspectives Bruno Flamion (Belgium) 1710 – 1750 Implementation of pharmacogenomics and its regulatory applications Yoshiaki Uyama (Japan) 1750 - 1830 Role of biobanks and international consortia in discovery of pharmacogenomic associations Munir Pirmohamed (UK)
1830 - 1930	Free
1930 - 2230	Conference Dinner - LUNA PARK

0830 - 1030	Symposium Systems biomedicine: Networks and network architecture in biology and disease Chair 1: John Mattick (Australia) Chair 2: Vivian Cheung (USA) 0830 – 0915 Integrating genomics and proteomics to study synapse biology and disease Seth Grant (UK) 0915 - 1000 Systems biomedicine and their computational platforms Hiroaki Kitano (Japan) Oral presentations 1000 - 1015 Multivariate genome wide association analysis of phenotype networks Michael Inouye 1015 – 1030 Statistical challenges in unravelling the genomic architecture of complex disorders and the determination of risk for an individual Susan Wilson	Symposium Genomics and genetics in disease therapeutics Chair 1: Ingrid Winship (Australia) Chair 2: Gert Jan Van Ommen (Netherlands) 0830 - 0910 Gene therapy: progress, pain and persistence Ian Alexander (Australia) 0910 - 0950 Development of exon skipping therapy for DMD, HD and other 'common rare' diseases Gert Jan van Ommen (Netherlands) 0950 - 1030 Therapeutic vaccines for lymphoma: A tale of bench to bedside translation Larry Kwak (USA)	Advances in genomic sciences: NG DNA sequencing Chair 1: Bing Yu (Australia) Chair 2: YY Teo (Singapore) 0830 - 0910 Cohort and personalized cancer genome sequencing in pancreatic adenocarcinoma Sean Grimmond (Australia) 0910 - 0950 Clinical genetics and sequencing Richard Gibbs (USA) 0950 – 1030 The landscape of chromatin interactions and the models for transcription regulation Ruan Yijun (Singapore)
1030 - 1100	Morning tea
1100 - 1300	Advances in genomic sciences: Computational genomics Chair 1: Melody Caramins (Australia) Chair 2: Veronica van Heyningen (HUGO) 1100 – 1140 Detection of disease causing variants with massively parallel sequencing Melanie Bahlo (Australia) 1140 – 1220 Relating microRNA and mRNA expression in cancer genomics Terry Speed (Australia) 1220 – 1300 Inferring population structure and dynamics from sequencing datasets Niranjan Nagarajan (Singapore)	Advances in genomic sciences: Cellular genomics – iPS cells and cancer stem cells Chair 1: John Christodoulou (Australia) Chair 2: Huck Hui Ng (Singapore) 1100 – 1150 Delineating the mammary stem cell hierarchy and its molecular regulators Jane Visvader (Australia) 1150 - 1245 Systems biology of stem cells Huck Hui Ng (Singapore) Oral presentation 1245 - 1300 A novel genome wide assay identifies chromatin domains involved in stem cell behaviour Steven Okino	Symposium Epigenetics & epigenomics Chair 1: Kris Barlow-Stewart (Australia) Chair 2: Ruan Yijun (Singapore) 1100 – 1145 Cancer epigenomic remodelling: What does this mean? Susan Clark (Australia) 1145 – 1230 Charting the mammalian epigenome Bing Ren (USA) Oral presentations 1230 – 1245 Genome, epigenome and transcriptome landscape of oral tongue squamous cell carcinoma along with matched potentially malignant lesions Binay Panda 1245 – 1300 Genome scale investigation of the genetic control of the epigenome Tim Aitman
1300 - 1400	Lunch and oral presentations
1300 - 1400	Oral Presentations: Cancer Genetics Chair 1: Juergen Reichardt (Australia) Chair 2: Anthony Brookes (UK) 1300 – 1315 Personalised medicine for mutant p53-expressing tumours David Callen 1315 – 1330 Novel gain-of-function of transcription factor FoxP3 as co-transcription factor for STAT3 in regulatory T cells in tumour milieu Gaurisankar Sa 1330 – 1345 Chemo-genetic approach to regulate the functional interplay between ATM signalling network for sensitisation of resistant tumours Tanya Das 1345 – 1400 Lung cancer genomics helps to identify and characterise molecular function of a novel suppressor of metastatic lung adenocarcinoma Shantanu Chowdhury	Oral Presentations: Population Genetics Chair 1: Bing Yu (Australia) Chair 2: Michael Rossbach (Singapore) 1300 – 1315 Low depth, whole genome sequencing of Dai population isolate demonstrates superiority over use of whole genome genotyping arrays in uncovering population structure, demographic history and selective pressures in non-European populations Ruoyan Chen 1315 – 1330 Deep whole genome sequencing of 100 south-east Asian Malays Yik-Ying Teo 1330 – 1345 A genome wide association study identifies a new susceptibility locus for type 2 diabetes in Indians Dwaipayan Bharadwaj 1345 – 1400 People of the British Isles: an analysis of the genetic contributions of European populations to a UK control population Stephen Leslie	Oral Presentations: DNA sequencing Chair 1: Ingrid Winship (Australia) Chair 2: Stylianos Antonarakis (HUGO) 1300 – 1315 Analysis of exome capture: a “how to” guide depending on disease and population characteristics Paul Leo 1315 – 1330 An integrative approach to identify patient-specific mechanisms for individualised lung cancer treatment from heterogeneous whole-genome data Ralf Herwig 1330 - 1345 Missense mutation of GJB1 in X linked spinocerebellar ataxia (SCA-X1) Melody Caramins 1345 – 1400 A signals and systems approach to quantifying false discovery rates which is robust against batch noise in high-throughput genomic datasets Yalchin Oytam
1400 - 1600	Plenary Genetics & genomics of personalised medicine - cancer genomics Chair 1: Maija Kohonen-Corish (Australia) Chair 2: Alfredo Hidalgo Miranda (Mexico) 1400 – 1440 Opportunities for personalised medicine in breast and ovarian cancer: Results from recent genome wide association studies Georgia Chevenix-Trench (Australia) 1440 – 1520 Sequencing the genome of acute lymphoblastic leukaemia: The new frontier Charles Mulligan (USA) 1520 - 1600 Order in the structural mutations of cancer Edison Liu (Singapore)
1600 - 1630	Afternoon tea
1630 - 1800	HUGO President’s Oration Chair: Edison Liu (President of HUGO) 1630 - 1730 The central role of RNA in human evolution, development and cognition John Mattick (Australia) Chen Award Recipient: Distinguished Academic Achievement in Human Genetics & Genomic Research Chen Award Prize Presentation Closing Ceremony HGM2013

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Additonal Meetings

Saturday 10 March 2012
Genetics in the Courts (DNA Evidence): Current and Future Trends

Tuesday 13 March 2012
The Forum on Synthetic Biology: Challenges and Opportunities for Australia

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View conference guide

View RCPA
Pathology Update