Chairs: John Upham and Jane Bourke. 1:30pm. Sultana Syeda. Spirometry reference ...... Joshua Smith. LTBP-2 is highly expressed in hypertrophic skin ...
Registration 2:00 PM - 6:30 PM
Convention Centre Foyer
Opening and Welcome 3:00 PM - 3:15 PM Chair: Rosemary Keogh
Room 109/110
The Hon. Mark Butler, Minister for Mental Health and Ageing NHMRC Symposium 3:15 PM - 4:15 PM Chair: Warwick Anderson Warwick Anderson, NHMRC State of NHMRC 2010
Room 109/110
Helena Teede, The Jean Hailes Foundation for Women's Health Women's Health - Polycystic Ovary Syndrome Paul Glasziou, Bond University The Importance of Evidence-based and Translational Research ASMR Forum - Framework For The Future - An Asia Pacific HMR Funding Union 4:15 PM - 5:30 PM Facilitator: Norman Swan
Room 109/110
Participants: Robyn Norton, Principal Director of The George Institute for Global Health Ed Liu, Executive Director, Genome Institute of Singapore Andrew Cochrane, Chairman, The Hospital of Hope, Timor-Leste Rado Faletic, Executive Director, Forum for European-Australian Science & Technology Cooperation (FEAST) Richard Woolcott, AC., Former Secretary of the Department of Foreign Affairs & Trade, former Australian Ambassador to Indonesia & the Phillipines, former High Commissioner to Malaysia, Ghana & Singapore Kim Mulholland, Founding Director of Centre for International Child Health Welcome Reception 5:30 PM - 6:30 PM
Convention Centre Foyer
Registration 7:30 AM - 6:30 PM
Convention Centre Foyer
Repairing The Heart 8:30 AM - 10:30 AM Chairs: Peter Little and Peter Currie 8:30am Kenneth Chien Regeneration Next: Towards Heart Stem Cell Therapeutics abs#001 9:15am Rodney Dilley Supportive environments for cardiac tissue engineering in vivo abs#002 9:40am David Elliott Stem cell derived human cardiac progenitor cells: building blocks of the heart 10:05am Suku Thambar Catheter Based Delivery of Stem Cells for Myocardial Repair-Where Are We? Pulmonary Arterial Hypertension 8:30 AM - 10:30 AM Chair: Trevor Williams
Plenary Hall 1
abs#003 abs#004
Room 101/102 Session sponsored by Pfizer Australia
8:30am
9:15am
9:40am
10:05am
Olivier Sitbon Treat-to-target strategies in pulmonary arterial hypertension – A plea for combination therapy abs#005 Robin Fowler Characteristics of patients with unexplained dyspnoea and risk factors for pulmonary arterial hypertension abs#006 Tamera Corte Identification and Treatment of Pulmonary Hypertension in patients with Interstitial Lung Disease abs#007 Ann Reynolds Bone morphogenetic protein receptor type 2 as a therapeutic agent in pulmonary hypertension abs#008
Nutrition and Pancreatic Diseases 8:30 AM - 10:30 AM Room 104 Chair: Ron Pirola 8:30am Vay Liang Go Nutrition and Pancreatic Diseases abs#009 9:15am Jeremy Wilson Enteral nutrition in acute pancreatitis abs#010 9:40am Richard Turner Nutritional cofactors in the pathogenesis of chronic pancreatitis: postcards from the coalface of clinical research abs#011 10:05am Christie Graham Nutrition in Cystic Fibrosis abs#012 Developmental Programming: Links Between Placenta and Epigenetics 8:30 AM - 10:30 AM Room 106 Chairs: Marilyn Renfree and Eva Dimitriadis 8:30am Marilyn Renfree Opening Address 8:40am Richard Saffery DNA methylation analysis of the human placenta: Regulation by genetic, environmental, gestational and sex specific effects abs#013 9:10am Brendan Waddell Developmental programming by maternal obesity: A placental effect? abs#014
9:40am
Abigail Fowden The placenta and developmental programming
abs#015
Sleeping and Cardiovascular Risk 8:30 AM - 10:30 AM Chairs: Rosemary Horne and Matthew Naughton 8:30am Raouf Amin Not available at time of publication abs#016 9:15am Garun Hamilton Not available at time of publication abs#017 9:40am Matthew Naughton Not available at time of publication abs#018 10:05am Ian Wilcox Sleeping and Cardiovascular Risk abs#019
Room 107
ASIEM Session I 8:30 AM - 10:30 AM Chairs: Sue Thompson and Jim McGill 8:30am Mike Bennett Clinical aspects of Fatty acid oxidation disorders (FAOD) 9:15am Melanie Gillingham Nutrition Management of Long-Chain Fatty Acid Oxidation Disorders 10:00am Kevin Carpenter Laboratory investigation of Fatty Acid Oxidation Defects abs#021
Room 108
abs#020
Cell Biology Of Barrett's Oesophagus 8:30 AM - 10:30 AM Chair: Wayne Phillips
Room 109 Session sponsored by Cancer Council NSW
8:30am
9:15am 9:45am 10:15am
Kausilia Krishnadath The Squamous-Intestinal-Transition as seen in Barrett's esophagus depends on a synergistic interaction between the BMP4/pSMAD pathway and CDX-2 David Tosh Molecular and cellular basis of Barrett's oesophagus abs#023 Nicholas Clemons Pathways driving columnar differentiation in the development of Barrett's oesophagus Reginald Lord Biomarkers for Barrett's oesophagus and adenocarcinoma abs#025
Molecular Mechanisms Of Platelet Adhesive Interactions 8:30 AM - 10:30 AM Chairs: Elizabeth Gardiner and Simone Schowenwalder 8:30am Wolfgang Bergmeier Novel molecules in calcium signaling in platelets abs#026 9:30am Shaun Jackson Dynamics of Platelet Aggregation During Thrombus Formation 10:00am Robert Andrews Platelet receptor shedding in health and disease abs#028
abs#022
abs#024
Room 110
abs#027
ASoC Session I 9:00 AM - 10:30 AM Room 103 Chair: Amanda Howden 9:00am Damien Bruno Detection of chromosome mosaicism, chimerism and clinically significant long continuous stretches of homozygosity by molecular karyotyping with SNP microarrays abs#029 10:00am Emma Palmer Affymetrix Cytogenetics Whole-Genome 2.7m Array Testing in a Community Cohort with Intellectual Disability abs#030 10:15am Nicole Martin Male Reciprocal Translocation Carriers – Frequency of the Different Meiotic Segregation Patterns Influences the Likelihood of a Successful Pregnancy abs#031 ASGC - Genetic Counsellors and Public Health: Working Outside the Box 9:00 AM - 10:00 AM Chairs: Sue Fawcett and Ivan Macciocca Speaker: Andrew Faucett
Room 105
ASGC - Professional Reflections on Clinical Cases (ASGC Registrants Only) 10:00 AM - 10:30 AM Room 105 Chairs: Kate Pope and Melody Menezes Facilitators: Anne Baxendale and Rony Duncan Case 1: R.Dickson. ‘Cascade testing for long QT syndrome: bending protocols in response to parental anxiety’ ASMR Professional Development Program 10:00 AM - 5:00 PM
Room 111/112
AACG - Dysmorphology Case Presentation I 10:00 AM - 12:30 PM Chair: Sue White Closed Session - AACG Members Only Morning Tea 10:30 AM - 11:00 AM Plenary I 11:00 AM - 12:00 PM Chair: George Yeoh Brigid Hogan Epithelial progenitor cells in lung development, maintenance and repair
Room 206
Exhibition Hall
Plenary Hall 1
abs#034
ASoC Session II 11:00 AM - 11:30 AM Room 103 Chair: Sharon Bain 11:00am Ellie Smith Secondary acute myeloid leukaemia with a novel rearrangement of chromosome 11q, accompanied by loss of heterozygosity, in a patient with precursor B cell ALL at diagnosis abs#032 11:15am Ruth MacKinnon Narrowing the 5q31 Deleted Region in Myelodysplastic Syndromes abs#033
ASGC - Professional Reflections on Clinical Cases II (ASGC Registrants Only) 11:00 AM - 12:00 PM Room 105 Chairs: Kate Pope and Melody Menezes Facilitators: Anne Baxendale and Rony Duncan 11:00am Case 2: J. Hogan, A. Turner, K. Tucker, L. Warick. ‘Unintended diagnosis of Von Hippel Lindau syndrome using array comparative genomic hybridisation (CGH)’ 11:20am Case 3: L. Cicciarelli and C. Smyth. ‘When it all doesn’t add up: two patients, two different stories and challenges for the genetic counsellor’ 11:40am Case 4: J. Berkman. ‘Huntington disease: the pressure to test’ ASIEM Session II 11:00 AM - 12:00 PM Room 108 Chair: Callum Wilson 11:00am Francis Bowling MALDI-TOF characterisation of CDG disorders abs#035 11:15am Rhonda Akroyd Liver transplant for maple syrup urine disease - a first for New Zealand abs#036 11:30am Rachael Sharman Cognitive development in children with early and continuously treated phenylketonuria: Results of an 8 year longitudinal study abs#037 11:45am Emma Clover Glycogen Storage Disease: Transition to Adult Services - Processes and Challenges abs#038 ASoC AGM 11:30 AM - 12:30 PM Chair: Sharon Bain Lunch and Poster Viewing 12:00 PM - 1:30 PM ThSANZ Poster presentation session – Abstract numbers 535-542
Room 103
Exhibition Hall
ASSCR AGM 12:30 PM - 1:30 PM
Plenary Hall 1
APC AGM 12:30 PM - 1:30 PM
Room 104
ASIEM Session III 12:45 PM - 1:00 PM Survey of Members ASIEM AGM 1:00 PM - 1:45 PM
Room 108
Room 108
ASSCR Workshop - Is Regenerative Medicine Lost in Translation? 1:30 PM - 3:00 PM Plenary Hall 1 Chair: Graham Jenkin Panel Discussion Members: Louise Laurent, Justin St John, Ernst Wolvetang, Varlli Beetham, Kenneth Chien, Peter Mountford, Alan Petersen
ThSANZ Free Communications 1:30 PM - 3:00 PM Room 101/102 Chairs: John Upham and Jane Bourke 1:30pm Sultana Syeda Spirometry reference equations for elderly Australians abs#039 1:45pm Michael Schuliga The effects of plasmin on airway smooth muscle function: Potential roles in airway inflammation and remodelling abs#040 2:00pm Anzari Atik Does intra-uterine inflammation have a persistent effect on the lung following preterm birth? abs#041 2:15pm Megan O'Reilly Exposure of the immature mouse lung to hyperoxic gas: do structural changes induced in the lung cause long-term changes in lung function? abs#042 2:30pm Joanne Van der Velden The Relationship Between Airway Vascularity and Mast Cell Density and Length of Allergen Exposure in a Sheep Model of Chronic Asthma abs#043 2:45pm Robert O'Donoghue Dysregulated Stat3 and Smad4 signalling link inflammation to chronic lung disease in mice abs#044 ASoC Discussion - BOCC: Current Innovations and Future Plans 1:30 PM - 3:00 PM Speakers: C. McCarthy: Exam changes R.Hutchinson: MOPS J. Ryan: Training
Room 103
APC Free Communications I 1:30 PM - 3:00 PM Room 104 Chair: Gino Saccone 1:30pm Madhav Bhatia Inflammatory Mediators in Acute Pancreatitis: Novel Possibilities for Therapeutic Interventions abs#045 1:50pm Maryam Bazargan Pain-related Gene expression profile during the onset and resolution of caerulein-induced acute pancreatitis in mice abs#046 2:00pm Lu Yang Collagen-1 increases the expression of Transgalin and Lumican (regulators of cell migration) by activated pancreatic stellate cells abs#047 2:10pm Mandira Chakraborty Peripheral mitochondrial function during experimental acute pancreatitis abs#048 2:20pm Alison Elder Treatment with feG reduces lung injury in a rat model of caerulein-induced acute pancreatitis complicated with lipopolysaccharide abs#049 2:30pm Chee Ooi The Severity Of Mutations In The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Determines The Risk Of Pancreatitis abs#050 2:40pm Peter Thorn Zymogen granule compound exocytosis is decreased in VAMP8-/- mice abs#051 2:50pm Natasha Behrendorff Co-secretion of acid with zymogens in the exocrine pancreas: consequences for physiology and pathology abs#052 ASGC - Self Care: In Pursuit and Practice 1:30 PM - 3:00 PM Chairs: Erica Brown and Alison Archibald Speaker: Linda Espie
Room 105
SRB/ESA Free Communications 1:30 PM - 3:00 PM Room 106 Chairs: Laura Parry and Mary Wlodek 1:30pm Martha Lappas Glucose metabolism, in response to oxidative stress, is unaltered in placenta obtained from women with gestational diabetes: Implications for fetal growth and development abs#053 1:45pm James Cuffe Alterations in placenta RAS after short term maternal glucocorticoid exposure in the mouse abs#054 2:00pm Kirsty Pringle Evidence for epigenetic regulation of the intrauterine renin angiotensin system abs#055 2:15pm Shunsuke Suzuki Characterisation of the marsupial PHLDA2 reveals eutherian specific acquisition of imprinting abs#056 2:30pm Linda Gallo Long-term alteration in maternal blood pressure and renal function after pregnancy in normal and growth restricted rats abs#057 2:45pm Tilini Gunatillake Homeobox gene TGIF-1 is an important regulator of placental endothelial cell function abs#058 ACCG/ProbeNet Free Communications I 1:30 PM - 3:00 PM Room 109 Chairs: Nick Hayward and Helen Abud 1:30pm John Mariadason Histone deacetylases (HDACs) as therapeutic targets in colon cancer abs#059 1:45pm Kevin Spring Oncogenic BRAF mutation and evasion of senescence in colorectal cancer abs#060 2:00pm Huiling Xu Rad21-cohesin haploinsufficiency enhances gastrointestinal radiosensitivity in mice abs#061 2:15pm Maija Kohonen-Corish 'Mutated in Colorectal Cancer' (MCC) is a novel target of the UV-induced DNA damage checkpoint abs#062 2:30pm Sebastian Markmiller A zebrafish model for the in vivo study of U12-type splicing in development and cancer abs#063 AVBS Free Communications 1:30 PM - 3:00 PM Room 110 Chair: Levon Khachigian 1:30pm Jian Qiao A patient with myelodysplastic syndrome and an acquired defect in platelet response to collagen helps redefine the signalling pathway leading to GPVI shedding abs#064 1:45pm Micah Burch Thrombin Stimulation of Proteoglycan Synthesis in Vascular Smooth Muscle is Mediated by PAR-1 Transactivation of the Transforming Growth Factor β -Type I Receptor abs#065 2:00pm Jane Arthur Generation of intracellular reactive oxygen species is an early event in signalling pathways downstream of platelet glycoprotein VI engagement abs#066 2:15pm Sapna Devi Glomerular inflammation induces persistence and intravascular migration of neutrophils in glomerular capillaries abs#067 2:30pm Kristine Malabanan Activation transcription factor-4 mediates Platelet-Derived Growth Factor-BB-Induction of Tenascin C and Smooth Muscle Cell Migration abs#068
2:45pm
Eunice Yang CEACAM2 negatively regulates platelet-collagen interactions and thrombus growth in vitro and in vivo abs#069
AACG - Dysmorphology Case Presentation II 1:30 PM - 3:00 PM Chair: Sue White Closed Session - AACG Members Only
Room 206
ASIEM Session IV 1:45 PM - 2:45 PM Room 108 Chair: David Coman 1:45pm Xenia Kaidonis Improvement of central nervous system pathology in murine mucopolysaccharidosis IIIA with ganglioside targeted substrate reduction therapy abs#070 2:00pm Heidi Peters Treatment of a Methylmalonic aciduria mouse model with intra-liver transplantation of a developed novel liver progenitor cell line abs#071 2:15pm Jasper Komen -/Modelling OXPHOS disorders using Ndufs4 mice abs#072 2:30pm Ann Frazier -/The Ndufs4 mouse: A model to study the neuropathogenesis of mitochondrial disease abs#272 Afternoon Tea 3:00 PM - 3:30 PM
Exhibition Hall Sponsored by Victorian Cancer Biobank
Stem/Progenitor Cells In Lung Development and Disease 3:30 PM - 5:30 PM Plenary Hall 1 Chairs: Ivan Bertoncello and Ursula Manuelpillai Session sponsored by Australian Stem Cell Centre
3:30pm 4:00pm
4:25pm
4:40pm 5:05pm
Brigid Hogan Not available at time of publication abs#073 Andrew Lilja Macrophages derived from embryonic stem cells: gene delivery vehicles in experimental lung injury abs#074 Chew-Li Soh Generation of a reporter knock-in human embryonic stem cell line that facilitates identification of thymic epithelial cells during differentiation abs#075 Jonathan McQualter Insights into the organization of stem cells in the adult lung abs#076 Yuben Moodley Cellular Therapies for Lung Disease abs#077
ASoC Discussion: Array Technology 3:30 PM - 5:30 PM Speakers: M. Pertile G. Peters
Room 103
Preclinical Models Of Pancreatic Cancer 3:30 PM - 5:30 PM Room 104 Chair: Jeremy Wilson 3:30pm Kenneth Olive Therapeutic Intervention Targeting a Hedgehog-dependant Barrier to Drug Delivery in Pancreatic Cancer abs#078 4:15pm Christopher Scarlett Primary xenografts as a model for pre-clinical testing in pancreatic cancer abs#079 4:40pm Minoti Apte A Physiologically Relevant Animal Model of Alcoholic Pancreatitis abs#080 5:05pm Gino Saccone Pancreatic afferents, pain and Experimental Pancreatitis abs#081 ASGC - Professional Development and Certification 3:30 PM - 4:30 PM Chair: Lisa Gordon and Jan Hodgson Speaker: Alison McEwan
Room 105
Developmental Programming: Links BetweenPlacenta and Stress 3:30 PM - 5:30 PM Room 106 Chairs: Brendan Waddell and Anne Turner 3:30pm Mary Wlodek Intergenerational programming for rats born small and the influence of maternal stress abs#082 4:00pm Jordanna Master Being born small programs altered embryo development and function in the next generation abs#083 4:15pm Luba Sominsky Postnatal bacterial exposure produces transgenerational inheritance of anxiety-like behaviour: Role of microglial activation and histone acetylation abs#084 4:30pm Vicki Clifton Sex specific differences in fetal growth strategies in response to maternal stress during pregnancy abs#085 5:00pm Susan Sayers Origins of chronic disease in the Aboriginal Birth Cohort Study abs#086 Genetics and Sleep 3:30 PM - 5:30 PM Room 107 Chairs: Naomi Rogers and Dorothy Bruck 3:30pm Sam Berkovic Genetics of Sleep Epilepsies and Parasomnias abs#087 3:55pm Sarah-Jane Paine Understanding Individual Differences in Sleep Timing: Opportunities and Challenges for Genetic Research abs#088 4:20pm David Kennaway Clock genes and their role in the timing of sleep abs#089 4:45pm Emmanuel Mignot Immunogenetics of human narcolepsy abs#090
Genetics Of Colorectal Cancer 3:30 PM - 5:30 PM Chair: Joan Heath
Room 109 Session sponsored by Ludwig Institute for Cancer Research
3:30pm
4:15pm
4:45pm
5:15pm
Robert Cormier Sleeping Beauty-mediated transposon mutagenesis in the mouse identifies novel intestinal tract cancer genes abs#091 Oliver Sieber TGF-beta pathway mutations in colorectal cancer: From mutation spectra to molecular mechanisms abs#092 Megan Hitchins Constitutional methylation of the MLH1 gene in familial colorectal cancer is associated with complex inheritance patterns suggesting distinct underlying mechanisms abs#093 Barry Iacopetta Translation of research findings in colorectal cancer abs#094
Cell Signalling and Development 3:30 PM - 5:30 PM Chair: Peter Little
Room 110 Session sponsored by Baker IDI Heart and Diabetes Institute
3:30pm 4:30pm
5:00pm
Rik Derynck TGF-β-induced non-Smad signaling in EMT abs#095 Wenhua Zheng The Inhibitory Effect of Glutamate on the Survival Promoting Effect and Signaling of IGF-1 in Neuronal Cells abs#096 Levon Khachigian Preclinical analysis of DNAzymes suppressing cancer growth, metastasis and other vascular disease abs#097
AACG - Dysmorphology Case Presentation III 3:30 PM - 4:00 PM Chair: Sue White Closed Session - AACG Members Only
Room 206
ASIEM Session V 3:30 PM - 5:30 PM Room 108 Chairs: Kaustuv Bhattacharya and Lawrence Greed Session to begin with 9 poster presentations Peter Clayton Disorders of bile ducts Avihu Boneh A model for perturbation of signal transduction in the pathogenesis of Inborn Errors of Metabolism abs#098
AACG AGM 4:00 PM - 5:00 PM
Room 206
ASGC - AGM (ASGC Members Only) 4:30 PM - 5:30 PM
Room 105
AACG - RACP Supervisors Workshop 5:00 PM - 7:00 PM
Room 206
Poster Session I 5:30 PM - 6:30 PM Exhibition Hall ACCG/ProbeNet, APC, ASSCR, ASA, AVBS and SRB/ESA Poster Presentation Session – Abstract numbers 401-534 Additional Oral Abstracts also being presented as posters are listed in Poster Session Listing ASSCR Dinner 7:00 PM - 10:00 PM
Othello Greek Restaurant
APC Dinner 7:00 PM - 11:00 PM
The Little Press and Cellar
Registration 7:30 AM - 6:30 PM Neurometabolic Disorders 8:30 AM - 10:30 AM Chairs: Heidi Peters and David Thorburn
Convention Centre Foyer
Plenary Hall 1 Session sponsored by Shire Australia
8:30am 9:00am 9:30am 10:00am
Peter Clayton Genetic Metabolic Seizure Disorders in Infancy abs#099 Michael Bennett Mechanisms of neuronal death in Batten's Disease abs#100 Padraic Grattan-Smith Inborn errors of dopamine metabolism, their recognition and management abs#101 Joy Lee Current and Emerging Therapies for Lysosomal Storage Disorders abs#102
Cell-matrix Interactions and Signalling 8:30 AM - 10:30 AM Chair: John Bateman
Room 101/102 Session sponsored by Garvan Institute of Medical Research
8:30am
9:00am
9:30am
10:00am
10:15am
Reinhard Fässler Role of integrin-mediated signaling in the formation of cell surface caveolae abs#103 Robb De Iongh Integrin Linked Kinase (Ilk) is Required for Lens Epithelial Cell Survival and Proliferation abs#104 Matthew Naylor Beta1 integrin/Ilk signaling modulates seminal vesicle development and differentiation by suppressing Akt signalling abs#105 Gregory Hannigan Integrin-Linked Kinase localizes in the primary cilia and mediates Hedgehog signaling abs#106 Honor Hugo Rho kinase inhibition mediated by Y27632 in breast cancer cells modulates actin and cell-ECM attachment leading to epithelial to mesenchymal transition: dependence on Zeb1 abs#107
Vitamin D Biology 8:30 AM - 10:30 AM Room 103 Chairs: Natalie Sims and Ros Malley 8:30am Daniel Bikle Regulation of epidermal function by vitamin D and calcium abs#108 9:05am Rebecca Mason Photoprotection by vitamin D compounds abs#109 9:25am Paul Anderson Experimental Evidence for the Autocrine Effects of Vitamin D on Bone abs#110 9:45am Vanessa Sequeira 1α,25(OH)2D-induced increase in p53 is mediated independent of the classic vitamin D receptor abs#111 10:00am Nga Lam Increased bone VDR during low dietary calcium mediates renal negative feedback and impairs osteoclast and osteoblast activities in a mouse model abs#112 10:15am Clare Gordon-Thomson UV-induced oxidative and other forms of DNA damage are suppressed by 1,25 dihydroxyvitamin D3 in human keratinocytes abs#113
Molecular Mechanisms of Pancreatic Diseases 8:30 AM - 10:30 AM Chair: Minoti Apte 8:30am Pramod Garg Antioxidant Therapy for Chronic Pancreatitis abs#114 9:15am John Windsor Lymph and acute pancreatitis abs#115 9:40am Savio Barreto Specific therapy for Acute Pancreatitis: Exploring the Role of Antagonists abs#116 10:05am Phoebe Phillips Targeting Microtubules in Pancreatic Cancer to Overcome Drug Resistance
Room 104
Galanin
and
its
abs#117
ASGC Membership Abstracts 8:30 AM - 10:30 AM Room 105 Chairs: Linda Cicciarelli and Michael Bogwitz 8:30am Melody Menezes "Life on the front line": Experiences of healthcare professionals working with fetal anomaly abs#118 8:45am Mona Saleh Exploration of the cultural context of cancer, kinship and genetics amongst Arabic-Australians: implications for practice abs#119 9:00am Lucinda Freeman New directions: establishing a multidisciplinary clinic for the inherited Porphyrias abs#120 9:15am Selected short presentations of student posters Alice Horwood Health professionals’ views on perinatal hospice care: implications for genetic counselling practice abs#592 Lauren Hunt First-trimester screen biochemistry: assisted reproduction vs. spontaneous reproduction abs#804 Kate Scarff Evaluation of a written consent process for newborn screening in Victoria abs#808 9:45am Alison Archibald “The merry-go-round of discovery” families experiences of the diagnosis of fragile X syndrome abs#121 10:00am Patricia Hershberger Understanding high-genetic-risk couples' decisions regarding preimplantation genetic diagnosis in the United States: insight into family planning strategies abs#122 10:15am Ivan Macciocca Understanding, risk perception and psychological outcomes three months after predictive gene testing for hypertrophic cardiomyopathy and long QT syndrome abs#123 Host Cell Invasion and Evasion 8:30 AM - 10:30 AM Room 106 Chairs: Emma Parkinson-Lawrence and Kathy Andrews 8:30am Alan Cowman An old enemy, a new battle plan: Combating the global scourge of malaria in the genomic era abs#124 9:15am Doug Brooks Helicobacter pylori disruption of phagosome maturation abs#125 9:30am Heidi Drummer Biochemical and immunological studies on the Hepatitis C Virus glycoprotein E2 core domain abs#126 10:00am Jason Mackenzie West Nile virus stressed out our immune response abs#127
Cardiac Stress Responses: Signs and Signals 8:30 AM - 10:30 AM Room 107 Chairs: James Bell and Bianca Bernardo Session sponsored by Cardiac Society of Australia and New Zealand (CSANZ) 8:30am 8:50am 9:10am
9:30am
9:50am
10:10am
James Bell Sex, ischemia and the heart: it's complicated! abs#128 Bianca Bernardo Targeting PI3K-regulated microRNAs to combat cardiac stress abs#129 Xiao-Ming Gao Deletion of macrophage migration inhibitory factor protects the heart from severe ischemiareperfusion injury: A predominant role of anti-inflammation abs#130 Tatiana Tsoutsman Key Role of Connective Tissue Growth Factor (CTGF) in Familial Cardiomyopathy and Heart Failure abs#131 Darren Henstridge Heat shock protein 72 (HSP72) and its potential role in regulation of metabolism in the heart abs#132 Jason Peart Cardiac protective strategies based on the phenomena of pre- and post-conditioning. Rationale candidates for clinical translation? abs#133
Stem Cells In GI Cancer 8:30 AM - 10:30 AM Room 109/110 Chairs: Kevin Spring and Chris Scarlett 8:30am David Tosh Reprogramming of pancreatic cells to hepatocytes abs#134 9:15am Helen Abud Functional analysis of snail proteins in the intestinal stem cell niche abs#135 9:45am Jordane Malaterre Investigating the role of c-Myb proto-oncogene in intestinal stem cell function and tumorigenesis abs#136 10:15am Michael Michael The contribution of bone marrow-derived cells in gastrointestinal tumours abs#137 Morning Tea 10:30 AM - 11:00 AM Exhibition Hall Plenary II 11:00 AM - 12:00 PM Plenary Hall 1 Chair: Rob Ramsay Vivek Mittal Crosstalk between the bone marrow progenitors and disseminated tumor cells in metastatic organs promotes metastases abs#138
Lunch and Poster Viewing 12:00 PM - 1:30 PM CSANZ/ISHR Poster Presentation Session – Abstract numbers 543-547 and 64, 67, 69 ASMR AGM 12:30 PM - 1:30 PM
Exhibition Hall
Room 106
Basic Mechanisms of Cardiac Disease and Cardiac Protection 1:00 PM - 3:00 PM Room 107 Chairs: Rodney Dilley and Tatiana Tsoutsman 1:00pm Freya Sheeran Post-oxidative Protein Modification of Mitochondrial Bioenergetic Enzyme Activity in Human Failing Hearts abs#139
1:15pm
1:30pm
1:45pm
2:00pm
2:15pm
2:30pm
2:45pm
Geeta Sapra Co-induction of HSP70 with a novel therapeutic agent protects against atrial fibrillation in mice abs#140 Kom Yin Compensatory growth of healthy cardiomyocytes in diseased fetal hearts: effects on cardiomyocyte number at birth abs#141 Kate Weeks Targeting novel PI3K(p110α)-regulated genes to improve function of the failing heart: identification of Grb14 mediating cardioprotection abs#142 Kimberley Mellor Cardiac autophagy is activated and cardiomyocyte calcium handling is suppressed in response to high fructose intake abs#143 Elsa Chan NADPH oxidase and TGF-β Signaling Promote Extracellular Matrix Production in Cardiac Fibroblasts abs#144 Fay Khong 3',4'-Dihydroxyflavonol (DiOHF) Attenuates Diastolic Dysfunction and Oxidative Stress in Experimental Diabetic Cardiomyopathy abs#145 Melissa Reichelt Adenosine A2A Receptor - Myocardial Protectant and Vascular Target in Endotoxemia abs#146
Sutherland Lecture 1:30 PM - 3:00 PM Plenary Hall 1 Chair: David Amor 1:30pm Nigel Laing Sutherland Lecturer 2:30pm David Thorburn Pre-implantation Genetic Diagnosis for the mitochondrial DNA m. 8993T>G mutation yields a healthy child and evidence of selection for germ cells with high mutant loads abs#147 2:45pm Lyn Griffiths Use of the Norfolk Island Genetic isolate to identify migraine susceptibility genes abs#148 MBSANZ/ANZBMS Free Communications 1:30 PM - 3:00 PM Room 101/102 Chairs: Shireen Lamande and Julian Quinn 1:30pm Richard Wilson Novel aspects of chondrocyte biology and changes in the cartilage ECM revealed by proteomic analysis of mouse cartilage development in vivo abs#149 1:45pm Miralireza Takyar Osteoblastic EphrinB2 is required for normal osteoblast and osteoclast differentiation abs#150 2:00pm Erik Thompson Targeting MMP13 in Human Breast Cancer Metastasis to Bone abs#151 2:15pm Liliana Endo-Munoz The osteoclast as a potential therapeutic target for the prevention of pulmonary metastasis in osteosarcoma abs#152 2:30pm Melissa Barron Activation of the P2X7 receptor decreases proliferation and alkaline phosphatase activity in human primary osteoblasts abs#153 2:45pm Amy Russell Comparison of the degradative and inflammatory potential of cultured articular chondrocytes and synovial fibroblasts from patients with osteoarthritis abs#154 Obesity and Reproductive Health 1:30 PM - 3:00 PM Chairs: Terry Piva and Helena Teede 1:30pm Helena Teede Reproductive health and obesity across the lifespan
Room 103
abs#155
2:00pm 2:30pm
2:45pm
Jodie Dodd Obesity in pregnancy – effects on the woman and her infant abs#156 Eunice Yang Mucin 1 expression in human breast and lung cancer – use of the novel CT1.53 and CT91 monoclonal antibodies to avoid variable glycosylation artefacts abs#157 Katie Dixon Integrated pathways in prostate cancer: a novel therapeutic approach abs#158
APC Free Communications II 1:30 PM - 3:00 PM Room 104 Chair: Peter Thorn 1:30pm John Chen Whipple's Resection for Pancreatic Neuroendocrine Tumours abs#159 1:40pm Eva Fiala-Beer Role of Pancreatic Stellate Cells in Pancreatic Cancer: The Urokinase Plasminogen Activator System abs#160 1:50pm Emily Stoddart Characterisation Of Kinase Signaling Networks In Pancreatic Cancer By Phosphoproteomics abs#161 2:00pm Chang Moo Kang Pylorus-& spleen-preserving total pancreatoduodenectomy with segmental resection of SMV-SVPV confluence and end-to-end anastomosis following CCRT in borderline resectable pancreatic head cancer -Video abs#162 2:10pm Arun Sondur Jayappa Hepatocyte growth factor: a potential therapeutic target in pancreatic cancer abs#163 2:20pm David Chang Histopathological and Molecular Phenotypes and Outcome in Carcinoma of the Ampulla of Vater abs#164 2:30pm Jeremy Humphris The prognostic value of serum CA19.9 in patients with resectable pancreatic adenocarcinoma abs#165 2:40pm Christopher Scarlett High S100A2 Calcium-Binding Protein Expression De-Regulates Key Pathways Associated with Pancreatic Cancer Metastasis abs#166 2:50pm Ross Smith Changes in Body Composition after Pancreaticoduodenectomy abs#167 ASIEM Dietetic Workshop 1:30 PM - 3:00 PM Chair: Melanie Gillingham
Room 105
ASMR Firkin Oration 1:30 PM - 2:00 PM Chair: Alison Butt
Room 106 Session sponsored by CSL
David Sinclair The Sirtuins: Defense enzymes that counteract diseases of aging abs#168 ACCG/ProbeNet Free Communications II 1:30 PM - 3:00 PM Chairs: Nick Hawkins and David Whiteman 1:30pm Matthias Ernst New roles for interleukin-11 in mucosal immunity and colorectal cancer abs#169 2:00pm Richard Hummel MiRNAs improve response to chemotherapy in esophageal cancer abs#170
Room 109
2:15pm
2:30pm 2:45pm
Aaron Thrift Effect of Helicobacter pylori infection on the risk of Barrett's oesophagus: a population-based case-control study abs#171 Alex Boussioutas Establishing non-invasive diagnostic for Barrett's oesophagus abs#172 Chatura Jayasekera Endoscopic mucosal resection is essential for optimal treatment of invasive dysplastic Barrett's oesophagus prior to halo ablation program abs#173
ASSCR Late Breaking Research 1:30 PM - 3:00 PM Room 110 Chairs: Andrew Laslett and Kharen Doyle 1:30pm Louise Laurent A Systems Biology Approach to Pluripotency abs#174 2:15pm Ernst Wolvetang Non-viral Down syndrome iPS cells derived from primary fibroblasts exhibit neuronal differentiation and disease specific gene expression and phenotype abs#175 2:30pm Michael O'Connor Retinoblastoma-binding proteins are key regulators of human pluripotent stem cells abs#176 2:45pm Izhak Haviv Distinct roles for histone and DNA methylation in the regulation of cell type-specific expression patterns in the human mammary epithelium abs#177 Ageing, Cancer and Development 2:00 PM - 3:00 PM Room 106 Chairs: Alison Butt and Paul Dawson 2:00pm Paul Lockhart Loss of function of the retrograde intraflagellar transport protein WDR35 disrupts developmental Hedgehog signalling and causes Short-Rib Polydactyly syndrome abs#178 2:15pm Alexander Swarbrick Hedgehog ligand overexpression predicts poor outcome in breast cancer and is a potential therapeutic target for metastatic disease abs#179 2:30pm Tara Roberts SMG-1 heterozygous mice – a complex phenotype not explained by defective nonsense mediated decay abs#180 2:45pm Rachel Burt Identifying drug targets for prevention and treatment of hearing loss abs#181 Afternoon Tea 3:00 PM - 3:30 PM
Exhibition Hall Session sponsored by National ICT Australia Ltd (NICTA)
New Genetic Testing Technologies: Practical, Clinical and Societal Implications 3:30 PM - 5:30 PM Plenary Hall 1 Chairs: Sylvia Metcalfe and John Christodoulou Session sponsored by Murdoch Childrens Research Institute
3:30pm 4:00pm
Sherri Bale New Genetic Testing Technologies in Clinical Practice W. Andrew Faucett Reporting incidental findings in whole-genome testing
abs#182 abs#183
4:30pm 5:00pm
Rony Duncan From Paternalism to the Internet: Ethics of the New Genetics abs#184 Graeme Suthers What it takes: Introducing genetic tests into the Australian health care system
Hot Topics In Bone Research 3:30 PM - 5:30 PM Chairs: Rik Thompson and Eleanor Mackie
abs#185
Room 101/102 Session sponsored by St Vincent’s Institute
3:30pm 4:15pm 4:45pm 5:15pm
Vijay Yadav Regulation of bone mass through serotonin abs#186 Stephen Robertson The role of WTX in skeletal development and homeostasis abs#187 Paul Baldock The Other Hypothalamus: Skeletal regulation by the Neuropeptide Y system abs#188 Shireen Lamande Mutations in TRPV4 cause an inherited arthropathy of hands and feet abs#189
Epigenetics and Cancer 3:30 PM - 5:30 PM Room 103 Chairs: Lisa Snow and John Mattick 3:30pm John Mattick RNA regulation of epigenetic memory and epigenome-environment interactions abs#190 4:00pm Catherine Suter Germline epimutation in humans abs#191 4:30pm Nicholas Saunders Tumour initiating activity and cisplatin resistance in SCC cell lines is not attributable to a cancer stem cell abs#192 4:45pm Askar Abubakar Mutational Analysis of BRM in Human Skin Cancer abs#193 5:00pm Sizhao Wang EGF-dependent cellular responses to arsenic-induced oxidative stress abs#194 5:15pm Kate Herbert Modulation of Arsenic-Induced Toxicity by Resveratrol abs#195 Stem Cells and Pancreatic Cancer 3:30 PM - 5:30 PM Chair: David Goldstein 3:30pm Dianne Simeone Not available at time of publication abs#196 4:15pm John Rasko Springtime for Stem Cells abs#197 4:40pm Andrew Biankin The Australian Pancreatic Cancer Genome Initiative abs#198 5:05pm Sean Grimmond Defining the molecular basis of pancreatic cancer sequencing abs#199
Room 104
through
cancer
genome
ASIEM Combined Dietetic and Newborn Screening Workshop 3:30 PM - 5:30 PM Room 105 Chairs: James Pitt and Maureen Humphries Melanie Gillingham Update of essential fatty acids Patrick Aubourg Management of Adrenoleukodystrophy (ALD) and Metachromatic leukodystrophy (MLD) Enzo Ranieri The Utility of Pancreatitis Associate Protein (PAP) for Neonatal Screening for Cystic Fibrosis Dianne Webster Newborn Baby Screening for CAH in New Zealand abs#200 Microbial Effectors 3:30 PM - 5:30 PM Room 106 Chairs: Elizabeth Hartland and Paul Gilson 3:30pm Gadi Frankel Infection with enteropathogenic E. coli is a matter of life and death for cells abs#201 4:00pm Elizabeth Hartland Subversion of innate immune signaling by enteropathogenic E. coli abs#202 4:30pm Dena Lyras Restoration of TcdC Function Reverses Hypervirulence in Clostridium difficile NAP1/027 Epidemic Strains abs#203 5:00pm Timothy Newsome Viral factors required for vaccinia virus motility abs#204 MicroRNAs In The Heart: New Discoveries and Directions 3:30 PM - 5:30 PM Room 107 Chairs: Julie McMullen and Enzo Porrello Session sponsored by Cardiac Society of Australia and New Zealand (CSANZ)
3:30pm
4:00pm 4:30pm 5:00pm
Julie McMullen Identification of microRNAs that regulate physiological heart growth. A new avenue for treating heart failure? abs#205 Enzo Porrello MicroRNA control of the cardiac cell cycle abs#206 David Humphreys The miRNA profile of murine cardiomyocytes abs#207 Gregory Goodall A pathway to a pathway - finding microRNAs and their targets in EMT
abs#208
Signaling Pathways In GI Cancer 3:30 PM - 5:30 PM Room 109 Chair: Rob Ramsay 3:30pm Sylvie Robine How mouse models can unveil a new signaling pathway for colorectal tumorigenesis: The example of Notch abs#209 4:15pm Michael Buchert Epigenetic and genetic manipulations of the Wnt / β-catenin pathway in vivo abs#210 4:45pm Andrew Giraud Cytokine drive promotes tumourigenesis in a mouse model of gastric cancer abs#211 5:15pm Elizabeth Vincan Functions of FZD in the intestine and colorectal cancer abs#212
Stem Cells and Their Niche 3:30 PM - 5:15 PM Room 110 Chairs: Bernie Tuch and Caroline Gargett 3:30pm Shulamit Levenberg Controlled differentiation and organization of embryonic stem cells in 3D abs#213 4:15pm Jean-Pierre Levesque Haematopoietic stem cell niches: Characterization and dynamic regulation during mobilization abs#214 4:45pm Richard Mills Tailored Integrin-ECM Interactions To Direct Human Mesenchymal Stem Cell Differentiation abs#215 5:00pm Lincon Stamp Migration and differentiation of neural crest stem/progenitor cells from the embryonic gut after transplantation to the post-natal mouse colon abs#216 5:15pm George Yeoh, ASSCR President - Closing and Awards Presentation Poster Session II 5:30 PM - 6:30 PM Exhibition Hall ANZBMS, HGSA and MEPSA Poster Presentation Session – Abstract Numbers 548-640 Additional Oral Abstracts also being presented as posters are listed in Poster Session Listing HGSA Dinner 7:00 PM - 11:00 PM
Peninsula Shed 14
ASMR Student Breakfast 7:15 AM - 8:15 AM Rob Ramsay – Mentoring – Prior bookings necessary Registration 7:30 AM - 6:30 PM
Room 104
Convention Centre Foyer
New Genetic Therapies and Therapeutic Technologies I 8:30 AM - 10:30 AM Plenary Hall 1 Chairs: Heidi Peters and Steve Wilton 8:30am Patrick Aubourg Hematopoietic stem cell gene therapy with lentiviral vector in X-linked adrenoleukodystrophy abs#217 9:00am Alan Mackay-Sim Patient-derived neural stem cells from patients: novel models for brain diseases abs#218 9:30am Paul Verma Using pluripotency to develop models of disease and therapeutic technologies abs#219 10:00am Pamela Russell Overview of gene therapy for prostate cancer abs#220 New Approaches For Cartilage And Joint Repair 8:30 AM - 10:30 AM Room 101/102 Chairs: Amanda Fosang and Natalie Sims 8:30am Henning Madry Gene therapy for cartilage repair abs#221 9:15am Stan Gronthos The Molecular Mechanisms Mediating Maintenance of Osteogenic Precursor Cells and Bone Regeneration abs#222 9:45am Nathan Pavlos Resorptive Machinery of Osteoclasts abs#223 10:15am Varshini Ravi Mesenchymal Stem Cells Restore Material Properties and Gene Expression Profile of Stress Deprived Tendon in-vitro abs#224 Molecular Pathology 8:30 AM - 10:30 AM Room 103 Chairs: Greg Woods and Jim Kaufman 8:30am Jim Kaufman The birth of the adaptive immune system of jawed vertebrates abs#225 9:05am Gregory Woods Devil facial tumour disease: A transmissible cancer that still avoids immune detection abs#226 9:30am Gabriella Brown Cytotoxic Antitumour Responses in Tasmanian devils abs#227 9:45am Amy Suthers Further investigation of adaptive immunity in marsupials: expression of signalling molecules associated with B cell immunity abs#228 10:00am Sabine Flenady T cell signalling in endangered marsupials: expression of TCRζ, Lck and ZAP-70 in the endangered Bridled nailtail wallaby abs#229 10:15am Andrew Farrell P2X7 receptor activation induces cell death and CD23 shedding in human RPMI 8226 multiple myeloma cells abs#230
Innate Immune Mechanisms 8:30 AM - 10:30 AM Room 106 Chairs: Richard Ferrero and Anthony Jaworowski Session sponsored by Monash University and Burnet Institute
8:30am
9:00am
9:30am 10:00am
Nicolas Manel Engagement of innate immune system signals in HIV-specific adaptive immunity abs#231 Andrew Brooks Recognition of HLA-E by Natural Killer Cells is Impacted by Variation in Cytomegalovirus UL40 Sequences in Haemopoietic Stem Cell Transplantation Recipients abs#232 Paul Hertzog Not available at time of publication abs#233 Katryn Stacey Activation of innate immunity by cytoplasmic DNA abs#234
Morning Tea 10:30 AM - 11:00 AM
Exhibition Hall
Plenary III 11:00 AM - 12:00 PM Chair: Rosemary Keogh David Sinclair Targeting pathways that control aging – advances at the bench and in the clinic
abs#235
Lunch and Poster Viewing 12:00 PM - 1:30 PM
Exhibition Hall
Plenary Hall 1
Direct To Consumer Genetic Testing: The Good, The Bad and The Ugly 12:30 PM - 1:30 PM Room 106 Chairs: Craig Cormick and Kris Barlow-Stewart Kristine Barlow-Stewart Impact on trust and action when drowning in a sea of inconsistent risk prediction generated by DTC genetic testing abs#236 Industry Session MBSANZ AGM 12:30 PM - 1:30 PM
Room 101/102
MEPSA AGM 12:30 PM - 1:30 PM
Room 103
HGSA Oration 1:30 PM - 2:15 PM Chair: Julie McGaughran Jane Halliday A trip down memory lane: progress in prenatal testing
Plenary Hall 1
abs#237
MBSANZ Award Session 1:30 PM - 3:00 PM Room 101/102 Chair: John Whitelock 1:30pm Christopher Little Topographic differences in musculoskeletal tissues - nature versus nurture abs#238 2:15pm Andrew Ziolkowski Preservation of islet heparan sulfate as a therapy for Type 1 diabetes abs#239
2:30pm
2:45pm
Christine Chuang The mechanism and consequences of damage to the arterial extracellular matrix by an atherosclerotic lesion oxidant, peroxynitrite abs#240 Trevor Cameron Expression profiling of the UPR in Schmid chondrodysplasia mouse models reveals signaling network induction that alleviates ER stress but disrupts hypertrophy causing growth plate elongation abs#241
Wound Repair 1:30 PM - 3:00 PM Room 103 Chairs: Ian Darby and Tim Hewitson 1:30pm Ian Darby Role of Siah2 in Wound Healing - In Vivo and In Vitro Studies abs#242 1:55pm Tim Hewitson Kidney Fibrosis- Experimental Insights into Regulation abs#243 2:15pm Paul Sou Cellular Interactions In Head and Neck Tumour Progression abs#244 2:30pm Naomi Delic The epithelial-mesenchymal transition inducer, snail, inhibits terminal differentiation in squamous cell carcinomas abs#245 2:45pm Izhak Haviv Distinguishing Epithelial from stromal expression of mesenchymal signatures in cancer abs#246 Quantitative Biomedical Imaging and Modelling 1:30 PM - 3:00 PM Room 104 Chairs: Bogdan Solomon and John Costi 1:30pm Christian Langton Q-BIC Surrogates for the Failure Load of Bone abs#247 2:00pm Jennie Scarvell Finite element and experimental analysis of the effect of suction ports on femur strength abs#248 2:12pm Muhit Abdullah CT to Single-plane Fluoroscopy Registration: A non-invasive and viable alternative to RSA abs#249 2:24pm Dominic Thewlis A gait analysis and clinical case study of Piriformis rupture during total hip replacement through a posterior approach abs#250 2:36pm Angela Shi Examination of computer simulation of crack propagation in bone abs#251 2:48pm Geetha Mohan Application of in vivo micro-computed tomography in the characterization of a rat model of osteoarthritis abs#252 Infectious Diseases 1:30 PM - 3:00 PM Room 106 Chairs: David Anderson and Roy Robins-Browne 1:30pm Paul Gilson Characterisation of PTEX: the malaria protein export machine abs#253 1:45pm Fatima El-Assaad Plasmodium berghei-ANKA infected red blood cells cytoadhere to murine brain and lung microvascular cells both in static and flow conditions abs#254 2:00pm Kathy Andrews Transcriptional profiling the effects of hydroxamate-based HDAC inhibitors in P. falciparum abs#255
2:15pm
2:30pm
2:45pm
Erinna Lee Discovery and characterisation of the cell death machinery in platyhelminths: New strategies for the treatment of schistosomiasis abs#256 Paul Dawson Enhanced intestinal sulfomucin response to parasitic worm infection in hyposulfataemic mice abs#257 Lachlan Gray Unraveling HIV-1 viral transcription in the CNS: A role for the viral promoter in dementia and latency abs#258
HIV Vaccines 1:30 PM - 3:00 PM Room 107 Chairs: Damian Purcell and Johnson Mak 1:30pm Ronald Veazey Immunopathology of SIV infection and AIDS abs#259 2:00pm Anthony Kelleher New insights into antiviral CD4+ T cell responses: Identifying, isolating and expanding human antigen-specific effector and regulatory CD4 T cells abs#260 2:30pm Roland Strong The biophysics of designing HIV vaccines: understanding (and eliciting) neutralizing antibodies abs#261 AGTS Free Communications 1:30 PM - 3:00 PM Room 108 Chairs: Steve Wilton and Jim Vadolas 1:30pm Allison Dane AAV Delivery To a Humanised Liver Mouse Model abs#262 1:45pm Cindy Kok Gene therapy for a mouse model of citrullinaemia type I using a recombinant adeno-associated viral vector abs#263 2:00pm Alison Clarke Lentivirus-mediated expression of the therapeutic transgene IL-10 does not prolong graft survival in a sheep model of corneal transplantation abs#264 2:15pm Chris Siatskas Engineering immune tolerance to a CNS autoantigen by intrathymic gene transfer abs#265 2:30pm Albert Mellick Using Transcription Factor Id1 to Selectively Target Endothelial Progenitor Cells Offers Novel Strategies to Inhibit Tumor Angiogenesis and Growth abs#266 HGSA AGM 2:15 PM - 3:00 PM
Plenary Hall 1
Afternoon Tea 3:00 PM - 3:30 PM
Exhibition Hall
NARF Symposium 3:15 PM - 5:15 PM Chair: Phil Robinson
Room 107 Session sponsored by Children’s Medical Research Institute
3:15pm 3:45pm
Clare Parish Wnts improves cell replacement therapy in Parkinson's disease abs#267 Maria Kavallaris Multifunctional role for b III-tubulin in non-small cell lung cancer drug sensitivity and tumourigenesis abs#268
4:15pm
4:45pm
Michael Roberts Unravelling drug disposition in organs using 4D imaging modelling abs#269 The final presentation in this session will be the NARF Award Winner
and
impulse-response
HGSA Free Communications I 3:30 PM - 5:30 PM Plenary Hall 1 Chairs: Graeme Suthers and Kristine Barlow-Stewart 3:30pm Amy Herlihy The psychosocial impact of Klinefelter syndrome and attitudes towards diagnosis and screening abs#270 3:45pm Elvira Zilliacus Telehealth for hereditary breast/ovarian cancer genetic counseling: an effective alternative for Australian outreach centres abs#271 4:00pm Ann Frazier -/The Ndufs4 mouse: A model to study the neuropathogenesis of mitochondrial disease abs#272 4:15pm Christopher Barnett Dexamethasone normalizes aberrant elastic fibre production and collagen 1 secretion in LoeysDietz syndrome fibroblasts: a possible future therapy? abs#273 4:30pm Tiong Tan YPEL1 in craniofacial development and the distal 22q11.2 syndromes abs#274 4:45pm Megan Cotter Patterns of referrals and testing for the FMR1 gene for the last ten years in Victoria abs#275 5:00pm Ravi Savarirayan TRPV4-related skeletal dysplasias: A clinical, radiographic, and molecular study in 19 new families abs#276 5:15pm Elizabeth Algar Novel insights into the aetiology of 11p15 imprinting disorders from a cohort analysis of Beckwith Wiedemann and Russell Silver syndromes abs#277 Cartilage and Bone In Development and Disease 3:30 PM - 5:30 PM Room 101/102 Chairs: Margaret Smith and Henning Madry 3:30pm Mark Johnson The Multifaceted Roles of Wnt Signaling in Cartilage and Bone abs#278 4:15pm Levon Khachigian Immediate-Early Genes as Master Regulators in Angiogenesis, Inflammatory and Proliferative Vascular Disorders abs#279 4:45pm James Melrose HS directs Spinal Development: Observations from a comparative immunolocalisation study of the first trimester human spine abs#280 5:00pm Michelle McDonald Homozygous Deletion of Dickkopf-1 Results in a High Bone Mass Phenotype abs#281 5:15pm David Haynes TNF-like weak inducer of apoptosis (TWEAK) expression is elevated in synovial tissues and cartilage of osteoarthritic patients abs#282 Metals and Disease: The Changing Landscape 3:30 PM - 5:30 PM Room 103 Chairs: Des Richardson and Patric Jansson 3:30pm Roland Strong Why things are red: Siderocalin, from siderophores & bacterial virulence to apoptosis & cancer abs#283 4:05pm Des Richardson Nitrogen Monoxide (No) Storage And Transport In Cells Is Mediated By Glutathione-STransferaseπ And Mrp1 Via Dinitrosyl Iron Complexes abs#284
4:25pm 4:45pm
5:00pm
5:15pm
Julian Mercer Diseases involving copper: a growing list abs#285 Darius Lane Ascorbate stimulates cellular iron uptake from iron-citrate complexes and transferrin by distinct mechanisms abs#286 Megan Whitnall The MCK mouse heart model of Friedreich's Ataxia: Treatment by iron supplementation and examination of systemic iron loading abs#287 Angelica Merlot Mechanisms of Cellular Membrane Transport of Thiosemicarbazone Anti-Cancer Agents abs#288
Copy Number Variants (CNVs) In Health and Disease 3:30 PM - 5:30 PM Room 104 Chairs: Howard Slater and Jozef Gecz 3:30pm Lisa Shaffer Microarrays in the Clinical Laboratory: Diagnosing Chromosome Abnormalities and Single Gene Disorders abs#289 4:15pm Greg Peters The dosage-sensitive and -insensitive genetic loci: Can we discover which is which? And so predict the critical CNVs? abs#290 4:40pm Ingrid Scheffer CNV in the epilepsies abs#291 5:05pm Jillian Nicholl Identification of CNVs using array CGH; the interpretation dilemmas of this new technology abs#292 Viruses, Cancer and Non-coding RNAs 3:30 PM - 5:30 PM Room 106 Chairs: Jenny Anderson and Steve Gerondakis 3:30pm Ila Singh XMRV, a recently discovered retrovirus, and its role in prostate cancer and chronic fatigue syndrome abs#293 4:00pm Alexander Khromykh Flavivirus subgenomic non-coding RNA is required to overcome interferon-mediated anti-viral response abs#294 4:30pm John Mattick RNA regulation of development and disease abs#295 5:00pm Bryan Williams Rational Design Of Bifunctional siRNA abs#296 New Genetic Therapies and Therapeutic Technologies II 3:30 PM - 5:30 PM Room 108 Chairs: Steve Wilton and Jim Vadolas 3:30pm Jay Neitz Gene therapy for red–green colour blindness in adult primates abs#297 4:05pm Frank Alderuccio Gene therapy of haematopoietic stem cells as a treatment for autoimmune disease abs#298 4:35pm Ian Alexander Liver-targeted gene therapy for urea cycle defects: from mouse to man abs#299 5:05pm Steve Wilton Targeted splice switching intervention for Duchenne muscular dystrophy: Trials, triumphs and tribulations abs#300 NARF AGM 5:15 PM - 6:15 PM
Room 107
Poster Session III 5:30 PM - 6:30 PM Exhibition Hall ANZORS, ASMR, HGSA and MBSANZ Poster Presentation Session – Abstract Numbers 641-808 Additional Oral Abstracts also being presented as posters are listed in Poster Session Listing HGSA President’s Reception 5:30 PM - 6:30 PM Invitation Only ANZORS AGM 5:30 PM - 6:15 PM MEPSA Dinner 7:00 PM - 11:00 PM MBSANZ/ANZORS/ANZBMS Dinner 7:00 PM - 11:00 PM
Level One Foyer
Room 101/102 La Camera University House, The University of Melbourne
Registration 7:30 AM - 6:00 PM
Convention Centre Foyer
Whose Gene? Whose Mutation? 8:30 AM - 10:30 AM Plenary Hall 1 Chairs: Desiree du Sart and Val Hyland 8:30am Simon Patton Databases and Genetic Variation abs#301 9:00am Richard Cotton The Human Variome Project – Pilot Projects and Progress abs#302 9:30am David Ravine Gene mutation and patient registry databases – translating the ideal into practice abs#303 10:00am Dianne Petrie Finally diagnosed – so where to from here? abs#304 Matrix Remodelling In Development and Disease 8:30 AM - 10:30 AM Room 101/102 Chair: Christopher Little 8:30am Suneel Apte Regulation of microfibril biogenesis and TGFβ activity by ADAMTS proteases and ADAMTS-like proteins abs#305 9:15am Daniel McCulloch The role of the ADAMTS proteoglycanases in skeletal muscle development and regeneration abs#306 9:45am Charles Pagel Granzyme B Cleaves and Alters the Functional Properties of Osteopontin abs#307 10:00am Miriam Jackson Protease Activated Receptor-2 (PAR-2) and Activated Protein C (APC) Regulate Cartilage Degradation in Osteoarthritis (OA) abs#308 10:15am MoonSun Jung Enzymatic processing of the extracellular matrix heparan sulfate proteoglycan, perlecan, by mast cells abs#309 Photobiology 8:30 AM - 10:30 AM Room 103 Chairs: Gary Halliday and Scott Byrne 8:30am Gary Halliday BRM is a tumour suppressor gene for ultraviolet radiation-induced skin and ocular cancer abs#311 8:50am Uta Wille Mechanistic Insights into the Enzymatic Repair of UV Damage in DNA abs#312 9:15am Xiao Huang Human 8-oxoguanine DNA glycosylase-1 and cockayne syndrome b proteins and their interaction are necessary for DNA repair after UV irradiation in human skin abs#313 9:30am Vivienne Reeve Fruit Juices and Photocarcinogenesis abs#314 9:45am Elke Hacker The response of melanocytes to sunlight abs#315 10:00am Graeme Walker Transgenic mice as models to analyze naevi and melanoma abs#316 10:15am Michael Kimlin Non-invasive measure for long term sun exposure abs#317
Biomaterials and Skeletal Tissue Engineering 8:30 AM - 10:30 AM Room 104 Chairs: Scott Hollister and David Haynes 8:30am Scott Hollister Not available at time of publication abs#318 9:15am Seyed-Iman Roohani-Esfahani Enhancing Mechanical and Biological Behavior of Ceramic Scaffolds with a Double Layer Surface Modification abs#319 9:30am Peter Pivonka Experimental and theoretical analysis of 3D scaffolds for bone tissue regeneration and use in orthopaedic applications abs#320 9:45am ZuFu Lu The incorporation of rod shaped hydroxyapatite nanoparticles in PCL film provides an optimal osteogenic niche for stem cell differentiation by interacting with osteoblasts abs#321 10:00am Peter Pivonka Estimation of bone stiffness as function of osteoid mineralization time using a coupled biochemical – micromechanical model abs#322 10:15am Guocheng Wang Nanostructured glass-ceramic coatings for orthopaedic applications abs#323 utophagy and Phagocytosis In Inflammation and Infection 8:30 AM - 10:30 AM Chairs: Rod Devenish and Mark Hulett
Room 106 Session sponsored by Monash University
8:30am 9:00am
9:30am
10:00am
Chihiro Sasakawa New insights into Shigella-gut epithelium interaction abs#324 Rodney Devenish Burkholderia pseudomallei–containing phagosomes recruit LC3 but bacteria which escape the phagosomes are highly resistant to uptake by autophagosomes abs#325 David Sheffield The myotubularin phosphatase MTMR4 negatively regulates PtdIns(3)P on endosomes and phagosomes abs#326 Jennifer Stow Phagocytosis and secretion –joint pathways in activated macrophages abs#327
B Cells and Antibodies In Transplantation 8:30 AM - 10:30 AM Chairs: Peter Cowan and Steven Alexander
Room 107 Session sponsored by Novartis Pharmaceuticals Australia
8:30am 9:30am 10:00am
Lori West Transplant lessons learned from children: Sometimes it helps to be naïve Shane Grey BAFF, B cells and transplant rejection abs#329 Toby Coates Overcoming Immunological Barriers in Organ Transplantation abs#330
Influenza I 8:30 AM - 10:30 AM Chairs: Lorena Brown and Stephen Turner 8:30am Yoshi Kawoaka Not available at time of publication abs#331 9:00am Anne Kelso The 2009 H1N1 influenza pandemic: what happened in 2010?
abs#328
Room 111/112
abs#332
9:30am
9:45am
10:00am
10:15am
Aeron Hurt Assessing the viral fitness of oseltamivir-resistant influenza viruses in ferrets using a competitive mixtures model abs#333 Sarah Londrigan DC-SIGN and L-SIGN can Mediate Sialic Acid-Independent Infection of Cells by Influenza A Virus abs#334 Julie McAuley th PB1-F2 proteins from the 20 century pandemic and H5N1 influenza A viruses induce immunopathology and predispose the host to secondary bacterial pneumonia abs#335 Deborah Middleton Routes of invasion of HPAI H5N1 virus into the central nervous system: implications for vaccines and therapeutics abs#336
Morning Tea 10:30 AM - 11:00 AM
Exhibition Hall
Plenary IV – The EMBO Lecture 11:00 AM - 12:00 PM Chair: Michael Hickey
Plenary Hall 1 Session sponsored by EMBO
Reinhard Fässler Genetic analysis of integrin signalling in mice Lunch and Poster Viewing 12:00 PM - 1:30 PM Best of the Best Poster Award Judging
abs#337 Exhibition Hall
HGSA Free Communications II - Conference Highlights 1:30 PM - 3:00 PM Plenary Hall 1 Chairs: Martin Delatycki and Greg Peters 1:30pm Alison Compton High-throughput, pooled sequencing of a patient cohort identifies novel genes that cause human mitochondrial complex I deficiency abs#338 1:45pm Eric Joo Evaluation of Epigenetic Discordance in Human Umbilical Vein Endothelial Cells (HUVECs) from Newborn MZ Twins abs#339 2:00pm Paul James Clinical applications of the genomic variants associated with breast cancer in high risk hereditary breast cancer families abs#340 2:15pm Carol Dobson-Stone The role of SIGMAR1 in single-gene and complex neurodegenerative traits abs#341 2:30pm Howard Slater Chromosome mosaicism detected by molecular karyotyping with SNP microarrays abs#342 2:45pm Jeffrey Craig DNA methylation analysis in multiple tissues from twin pairs at birth reveals both genetic and in utero environmental/stochastic components to human neonatal epigenome establishment abs#343
MBSANZ Free Communications 1:30 PM - 3:00 PM Room 101/102 Chair: Sharon Byers 1:30pm Carmela Ricciardelli Versican induces a pro-metastatic ovarian cancer cell behavior which can be inhibited by small hyaluronan oligosaccharides abs#344 1:45pm Erik Thompson Image-guided sampling reveals increased dense connective tissue and lower glandular complexity in mammographically-dense breast tissue abs#345 2:00pm Noor Lokman Role of Annexin A2 in Ovarian Cancer Metastasis abs#346 2:15pm Laura Zamurs The proteasome is responsible for intracellular degradation of mutant and unassembled collagen VI chains abs#347 2:30pm Bill Cheng The Modulation of PF4 Activity by Novel Interactions with Proteoglycans abs#348 2:45pm Margaret Smith Mesenchymal stem cells injected into surgically-induced tendon lesions migrate towards muscle in a large animal model of shoulder tendinopathy abs#349 Nanoparticles and Health 1:30 PM - 3:00 PM Chairs: Paul Wright and Bryce Feltis
Room 103 Session sponsored by RMIT University School of Medical Sciences; Health Innovation Research Institute
1:30pm 2:05pm 2:25pm
2:45pm
Albert Duschl Interactions between Proteins and Nanoparticles abs#350 Paul Wright Engineered Nanomaterials: Recent Nanotoxicology and Nanosafety Issues abs#351 Brian Gulson Small amounts of zinc from zinc oxide particles in sunscreens applied outdoors are absorbed through human skin abs#352 Sean O'Keefe Effect of Nanoparticles and Organic UV Blockers on UVA Exposed Immune Cells abs#353
Clinical Orthopaedic Research 1:30 PM - 3:00 PM Room 104 Chair: Lorenz Meinel 1:30pm Lucian Solomon Applications of impaction grafting in clinical orthopaedics abs#354 2:00pm Matthew Broadhead Pigment epithelium-derived factor (PEDF) inhibits tumour growth and metastasis in a clinically relevant murine model of advanced osteosarcoma abs#355 2:12pm L Solomon Comparison between Treatment of Vancouver B2 Periprosthetic Fractures by Stem Retention and Internal Fixation v/s Stem Revision abs#356 2:24pm Yu Lee The effect of hip position on the length of gluteus medius, gluteus minimus, piriformis, obturator internus and obturator externus muscles. Functional correlations and implications for rehabilitation after total hip arthroplasty abs#357 2:36pm Matt Hofmann Minimally invasive hip replacement – 2 year results of a randomised controlled trial abs#358 2:48pm John Swan Significance of Sentinel Infective Events in Haematogenous Prosthetic Knee Infections abs#359
Immunology, Host Factors and Therapies 1:30 PM - 3:00 PM Room 106 Chairs: Fabienne McKay and Paul Hertzog 1:30pm Mark Hulett Histidine-rich glycoprotein is a novel plasma pattern recognition molecule that recruits IgG to facilitate necrotic cell clearance via FcgammaRI on phagocytes abs#360 1:45pm Michael McGuckin An intestinal epithelial defect leads to a complex innate and adaptive inflammatory response partially suppressed by IL-10 abs#361 2:00pm Ben Gu The P2X7 receptor mediates phagocytosis of apoptotic cells abs#362 2:15pm Gregor Lichtfuss Inflammation and immune activation associated with loss of NK cell ADCC signalling and function in HIV infection abs#363 2:30pm Hamish McWilliam A novel approach for the development of a vaccine against the human blood fluke, Schistosoma japonicum abs#364 2:45pm Stephen Blake Towards RNAi therapy for Cancer – Solving the Critical Issues abs#365 ASMR Early Career Presentations 1:30 PM - 3:00 PM Room 107 Chairs: Nicole De Weerd and Juliet Taylor 1:30pm Robert Smith Relevance of the GAEC1 oncogene in colorectal cancer: copy number changes are associated with cancer location, grade and behaviour abs#366 1:45pm Mubing Duan M1 and M2-like alveolar macrophages in animal models of lung infection and chronic lung disease abs#367 2:00pm Eleanor Woodward The anti-inflammatory actions of IL-4 in human monocytes occur independently of an early upregulation of IL-10 and CD-180 abs#368 2:15pm Beryl Wen Monocytic microparticles mediate vascular inflammatory responses in a model of endotoxic shock abs#369 2:30pm Megan Sutherland The effects of non-steroidal anti-inflammatory drugs and nitric oxide synthase inhibitors on the developing preterm kidney abs#370 Visualising Microbes and The Immune Response 1:30 PM - 3:00 PM Room 111/112 Chair: Michael Hickey 1:30pm Andrew Leis Visualising pathogens at the nanoscale abs#371 1:50pm Leann Tilley Electron tomography and super-resolution microscopy of malaria parasites abs#372 2:15pm Ben Roediger Not available at time of publication abs#373 2:40pm Stuart Turville HIV antennae on infected dendritic cells, represent fast rate, long distance means for membrane tethering prior to viral spread abs#374
Afternoon Tea 3:00 PM - 3:30 PM Announcement of Best of the Best Poster Award Winner
Exhibition Hall
Interrogating Exomes, Genomes and Transcriptomes 3:30 PM - 5:30 PM Chairs: Stephen Robertson and Edwin Kirk
Plenary Hall 1 Session sponsored by Illumina Australia Pty Ltd
3:30pm 4:00pm 4:30pm 5:00pm
Michael Bamshad Mendelian Genetics by Exome Sequencing abs#375 Sean Grimmond Integrated Transcriptome analysis of Pancreatic Cancer abs#376 Georgia Chenevix-Trench Genome Wide Association Studies – have we had enough already? abs#377 Mark Corbett From phenotype to mutation using massively parallel sequencing abs#378
Extracellular Matrix Proteins and The Musculoskeletal System 3:30 PM - 5:30 PM Room 101/102 Chair: Eleanor Mackie 3:30pm Eric Hoffman Are we barking up the wrong tree in chronic inflammatory conditions? Evidence for poorly synchronized remodeling as the primary culprit abs#379 4:15pm Peter Currie Zebrafish models of muscular dystrophy and the role of matrix adhesion in muscle cell survival abs#380 4:45pm Cindy Shu ∆3-/∆3HSPG2 mice display age dependent maturational changes in tail and Achilles tendon collagen fibril organisation and composition of functional significance abs#381 5:00pm Leona Tooley Collagen VI microfibril formation is abolished by an α2(VI) VWA domain mutation in a patient with Ullrich congenital muscular dystrophy abs#382 5:15pm Megan Lord The modulation of platelet and endothelial cell adhesion events by perlecan abs#383 Photoimmunology 3:30 PM - 5:30 PM Room 103 Chairs: Prue Hart and Jan Dutz 3:30pm Jan Dutz Using the skin to manipulate immunity - Effects of ultraviolet light and vitamin D on immune responses and autoimmunity abs#384 4:05pm Prue Hart Does vitamin D3 contribute to UV-regulation of immune responses? abs#385 4:25pm Michele Grimbaldeston Beyond IgE: Immunoregulatory roles of mast cells abs#386 4:45pm Royce Ng + UV-irradiation of skin reduces the competency of bone marrow-derived CD11c cells via an indomethacin-inhibitable pathway abs#387 5:00pm Scott Byrne Exposure to sunlight induces a co-ordinated alteration in inflammatory chemokines and cytokines that mediate the recruitment and activation of mast cells abs#388 5:15pm Devita Surjana Chemoprevention Of Actinic Keratoses By Oral Nicotinamide abs#389
Bone and Cartilage 3:30 PM - 5:30 PM Room 104 Chair: Jiake Xu 3:30pm Lorenz Meinel Silk-fibroin as a new material for cartilage and bone tissue engineering abs#390 4:15pm Hala Zreiqat Resorting to nature for inspiration to engineer scaffolds for repair and regeneration of skeletal tissue abs#391 4:45pm Yin Xiao Targeting the altered interaction of articular cartilage and subchondral bone in osteoarthritis environment can prevent osteoarthritis progression abs#392 5:00pm Jianping Wu studying the role of lamina splendens in the integrity of articular cartilage abs#393 5:15pm Jiake Xu Choline Kinase Beta plays an important role in bone homeostasis abs#394 Influenza II - Immune Protection 3:30 PM - 5:30 PM Chairs: Rosemary Ffrench and John Stambas
Room 106 Session sponsored by Monash University
3:30pm 4:00pm
4:30pm
4:50pm
5:10pm 5:20pm
Jacqueline Katz Public Health Research Response to the 2009 H1N1 Influenza Pandemic abs#395 Mark Kendall The Nanopatch: potent immunity to low doses of influenza vaccine by probabilistic guided microtargeted skin delivery; with cold-chain removal abs#396 Katherine Kedzierska Back to 1918: cross-reactive CD8+ T cell immunity and the A(H1N1)-2009 influenza pandemic abs#397 Jodie McVernon Population-level impacts of immunity – understanding implications for the 2009 and 2010 influenza A (H1N1) outbreaks in Australia abs#398 Karen Laurie Protection against H1N1 pandemic influenza virus in a ferret model abs#399 Devy Santoso Memory B cell and T-cell IFN-γ responses to pandemic H1N1 influenza in a longitudinal cohort study abs#400
Poster Session Listings Monday Lunchtime Poster Viewing 12:30 PM - 1:30 PM
Exhibition Hall
ThSANZ Poster Presentations Donna Barker The relationship between goblet cells and allergen exposure in a segmental house dust mite challenge model of asthma abs#535 Nadine Brew Repair of the Saccular and Early Alveolar Stage Lung following Mechanical Ventilation Injury Commences within 24h abs#536 Patricia Cmielewski Long term gene expression with reporter and therapeutic lentiviral gene vectors in cystic fibrosis mice abs#537 James Esposito Rosiglitazone inhibits airway contraction and calcium signalling in mouse lung slices abs#538 Noreen Ishak Investigating the basis for the male disadvantage in respiratory function following preterm birth abs#539 Megan O'Reilly Does exposure to hyperoxic gas in newborn mice persistently affect the development of the small conducting airways of the lungs? abs#540 A Samarasinghe Effects of perinatal stress on respiratory function in the offspring: possible role of impaired chemosensitivity abs#541 John Upham Adaptive immune responses to rhinoviruses: sex and age matter abs#542
Poster Session I - Monday 5:30 PM - 6:30 PM
Exhibition Hall
ACCG/ProbeNet Poster Presentations Nancy Amin Wnt/FZD signalling in the intestine abs#401 Andrew Badrock Defects in ribosome biogenesis underpin the morphological characteristics of a zebrafish development mutant, setebos, with eye, intestinal and craniofacial abnormalities abs#402 Catherine Bond BRAF, MSI and CIN - Molecular Determinants of Outcome of the Serrated Pathway of Colorectal Cancer abs#403 Kate Brettingham-Moore Pretreatment transcriptional profiling for predicting response to neoadjuvant chemoradiotherapy in rectal adenocarcinoma abs#404 Sandra Carpinteri DNA Vaccine effectively targeting gastrointestinal cancer in mice abs#405 Anderly Chueh Histone deacetylase inhibitors induce G2/M arrest in colon cancer cell lines with microsatellite instability through transcriptional down-regulation of spindle assembly checkpoint proteins abs#406
Silvia Corona Targeted Therapies in Colorectal Cancer abs#407 Leah Cosgrove Biomarker panel discovery for early detection of colorectal cancer (CRC) in blood samples abs#408 Maree Faux Independent interactions of phosphorylated β-catenin with E-cadherin at cell-cell contacts and APC at cell protrusions abs#409 Kim Fung Application of proteomics and gene expression to identify potential mechanisms of butyrate-induced apoptosis in HT29 and HCT116 colorectal cancer cell lines abs#410 Lauren Hare H1047R Using a novel mouse model to investigate the role of the PI3-Kinase mutation PIK3CA in colorectal cancer abs#411 Katja Horvay Snail Proteins In The Mouse Intestinal Stem Cell Niche abs#412 Lisa Kass Studies on the role of p73 proteins in intestinal stem cells and tumours abs#413 Shze Koh Overexpression of Protease-activated Receptors in Barrett's Oesophagus and Oesophageal Adenocarcinoma abs#414 Jia (Jenny) Liu The effects of folate on primary cultures of mouse intestinal crypts and human lymphocytes abs#415 Derek Nancarrow Genome-wide DNA Copy Number Analysis in Oeophageal Adenocarcinoma abs#416 Vibha Patil Investigation of the molecular events associated with gene resilencing following withdrawal of epigenetic therapies abs#417 Toby Phesse Stat3 Activity Provides a Pro-Neoplasic Environment to Promote Wnt Induced Intestinal Tumourigenesis abs#418 Vinochani Pillay Targeting mutant K-Ras with novel siRNA-antibody conjugates for the treatment of colorectal cancer abs#419 Shan Rajendra Human Papilloma Virus and Barrett's Oesophagus abs#420 Cameron Smith Altered Mirna Expression In Gastro-Oesophageal Reflux Disease And Mir-143 Expression In Barrett's Oesophagus abs#421 Eric Smith Genome-wide and CpG-island DNA methylation profiles differentiate between oesophageal adenocarcinomas from patients with or without Barrett's oesophagus abs#422 E Smith A comparison of primary oesophageal squamous epithelial cells with HET-1A in organotypic cultures abs#423 Eric Smith Expression of insulin-like growth factor-binding protein 7 is regulated by promoter DNA methylation and is associated with poor prognosis in oesophageal adenocarcinoma abs#424 Matthew Thompson Transcriptional regulation of immune responses by Activating Transcription Factor 3 may be protective against colitis associated colorectal tumourigenesis abs#425
Joe Tiralongo Regulation of cancer cell surface sialic acid: Towards the development of novel anti-metastasis agents abs#426 Henry To Familial Gastro-Oesophageal Reflux and Barrett's Oesophagus: A report on a large family abs#427 Thang Tran Alterations in the phosphatidylinositol-3 kinase/Akt pathway in gastric cancer abs#428 Sonika Tyagi SNEASER: an easy SNP filter pipeline abs#429 Lars Tögel Identification of DUSP5 as a potential mediator of Wnt/β-catenin - MAPK/ERK signalling crosstalk in colon cancer abs#430 Christine van Vliet A parent-of-origin effect in Lynch syndrome abs#431 Benjamin Williams Flexible, polymer capsules for targeted drug delivery to colorectal cancer abs#432 Aung Win Metachronous colorectal cancer risk for carriers of germline mutation in mismatch repair gene: the advantage of more extensive surgery abs#433 Sook Pheng Wong Quantitation of Notch signalling in normal and neoplastic cells abs#434 Yuqian Yan Sister chromatid cohesion facilitates loss of heterozygosity (LOH) of the wild type Apc allele and Min/+ enhances transcriptional activation by chromatin looping in adenoma formation in APC mice abs#435
ASSCR Poster Presentations Greger Abrahamsen Neurodevelopmental pathways altered in a novel, patient-derived cell model of schizophrenia abs#436 Khalid Abubaker The Interplay of Epithelial Mesenchymal Transition and Cancer Stem Cell-Like Phenotypes in Cisplatin Resistance of Ovarian Carcinomas abs#437 Dilara Akcora GM-CSF Is An Important Member Of Intestinal Stem Cell Niche In Adult Female Mice abs#438 Aveena Anantharajah The effect of different growth factors on the neurosphere differentiation of embryonic day 16 (E16) neural stem cells from the subventricular zone ( SVZ) in Sprague-Dawley rat abs#439 Melissa Becroft Screening for novel compounds that direct the differentiation of human ES cells towards a renal fate abs#440 Dimitrios Cakouros Twist-1 inhibits senescence by regulating expression of EZH2 and KDM6B altering histone H3-K27 tri-methylation along the Ink4a/ARF locus abs#441 Holly Cate BMP signalling increases astrogliogenesis in the subventricular zone during myelin injury abs#442 Lachlan Cooper The TWIST Family of Basic-Helix-Loop-Helix Transcription Factors, Twist-1 and-2, Mediate Mesenchymal Stromal/Stem Cell Proliferation and Differentiation abs#443 Carla Cunha Culture of adult neural stem cells within 3d biomaterial scaffolds abs#444
Kharen Doyle The role of olfactory microvillar cells during olfactory neurogenesis abs#445 Benjamin Dwyer Isolating islet progenitors with a novel monoclonal antibody abs#446 Jenny Ekberg Schwann cells interact with glial cells and neurons via motile lamellipodial waves abs#447 Rebecca Ellis A novel differentiative method for deriving mesenchymal stem/ stromal cells from human embryonic and induced pluripotent stem cells abs#448 Steven Gao The generation and testing of multicistronic vectors containing several pancreatic transcription factors linked by 2A peptides abs#449 Payam Gharibani Characteristics of GABAergic-like neurons obtained from induced Bone Marrow Stromal Cells in vitro abs#450 Pankaj Gulati Examining the role of various extracellular matrices upon the differentiation of mouse embryonic stem cells into neurons abs#451 Carrie Hardie The NSW Stem Cell Network: The views of its members abs#452 Kim Hynes Derivation of human induced pluripotent stem cells from periodontal ligament fibroblasts and gingival fibroblasts abs#453 Robert Jenny Investigation of hESC differentiation towards respiratory epithelium using an NKX2.1GFP/w hESC reporter line abs#454 Navdeep Kaur Influence of culture conditions on the molecular signature of mesenchymal stem cells abs#455 Nao Kobayashi Disrupted-in-schizophrenia 1 regulates cell survival of human neural progenitor cells abs#456 Ardian Latifi Cisplatin resistance in primary and metastatic ovarian carcinomas is sustained by epithelial mesenchymal transition and cancer stem cell-like phenotype abs#457 Jane Li Analysis of cardiac CFU-F by live cell imaging abs#458 Sue Mei Lim Comparative analysis of branching epithelium derived from embryonic Pdx1+ pancreas and differentiated embryonic stem cells abs#459 Jun Liu Generation of Embryonic Stem Cells from NOD Mouse abs#460 Hirotaka Masuda A novel marker of endometrial mesenchymal stem cells abs#461 Laurence Meagher Chemically defined synthetic surfaces for the culture of human mesenchymal stem cells abs#462 Tanya Medley Molecular Profiling Of Reprogrammed Aged Skeletal Muscle Identifies Them As An Appropriate Source For Cardiomyocyte Derivation abs#463 Peter Woolf Synthetic Peptide-Acrylate Surface (Pas) For Culture Of Human Mesenchymal Stem Cells In SerumFree Defined Medium abs#464 Megan Munsie Hopeful Journeys: Experiences of Australians Travelling Overseas for Stem Cell Treatment and Implications for Stem Cell Science and Regenerative Medicine abs#465
Sean Murphy Human Amnion Epithelial Cells as a Treatment for Adult Lung Disease abs#466 Cyndy Nauer mTeSR ™1 and mFreSR™: Serum-Free, Defined and Feeder-Independent Solutions for hESC and iPSC Culture and Cryopreservation abs#467 Jonathan Niclis Neural Differentiation of Human Embryonic Stem Cells is Impaired by the Hungtington's Disease Mutation abs#468 Carmel O'Brien Production of antibodies to identify and validate live human pluripotent stem cell populations abs#469 Alice Pebay Generation of Induced-Pluripotent Stem Cell Lines from Friedreich Ataxia Patients abs#470 Prue Plummer Targeting Bone Marrow Mediated Tumour Angiogenesis abs#471 Gayathri Rajaraman Optimisation of Serum-free and Xeno-free Culture Conditions for Human Endometrial Mesenchymal Cells abs#472 Aimee Sanderson Taking stem cells into the classroom – tailored educational material to assist Australian teachers abs#473 Henry Sathananthan Stem cells in advanced human embryos in vivo: clues to the origins and differentiation of embryonic stem cells (ESC) abs#474 Jason Seow Wnt16 induces Cardiogenesis via Canonical and Non-Canonical signalling abs#475 Jill Shepherd Transcriptomic and epigenomic analysis of pluripotency and reprogramming using next generation sequencing abs#476 Kuldip Sidhu Patient-derived iPS cells for modeling Alzheimer's diseases abs#477 Loane Skene Regulating Human Stem Cell Research In Australia: Issues For The Australian Federal Review In 2010 abs#478 Rebecca Skinner Informing the Public – Stem Cell Therapies, Now and in the Future abs#479 James St John Olfactory glia enhance neonatal axon regeneration abs#480 Huseyin Sumer Generation of induced pluripotent stem cells from bovine adult fibroblasts abs#481 Erik Thompson The EMPathy Breast Cancer Network - Targeting Breast Cancer Recurrence through Epithelial Mesenchymal Plasticity abs#482 Victoria Turner StemCore – Supporting Your Stem Cell Research Needs abs#483 Rajneesh Verma Inducing Pluripotency in Somatic cells from the Snow Leopard (Panthera uncia), an Endangered Felid abs#484 Alejandra Vitale Human Induced Pluripotent Stem Cells: A New Model To Study Schizophrenia abs#485 Bei Wang Late-passage human induced pluripotent stem cells show functional and differentiation differences to human embryonic stem cells abs#486
Zhi Wang Neuregulin-1 promotes differentiation of α-MHC/EGFP expressing transgenic embryonic stem cell clones towards a pacemaker phenotype abs#487 Stephen Wood Can Stem Cells be used to Prevent, as well as, Cure Disease? abs#488 Jimin Xiong Isolation, Characterisation and Differentiation Potential of Stem Cells Derived from Epithelial Cell Rests of Malassez abs#489 Linda Yang Derivation of a Bipotential Myocardial and Vascular Smooth Muscle Cell (VSMC) Progenitor from Human Embryonic Stem Cells abs#490 Kiryu Yap A combined in vitro and in vivo study on liver progenitor cell spheroids from a tissue engineering perspective abs#491 George Yeoh The role of cytokines and immune cells in liver regeneration mediated by liver progenitor cells abs#492 Qing Cissy Yu Apelin promotes growth of hematopoietic colonies from human embryonic stem cells (hESC) abs#493 Additional ASSCR Poster Chew-Li Soh Generation of a reporter knock-in human embryonic stem cell line that facilitates identification of thymic epithelial cells during differentiation abs #75
APC Poster Presentations Ravinder Pal Singh Babra Surgical Management of Internal Pancreatic Fistula abs#494 Savio Barreto Galanin receptors are poorly expressed in murine isolated pancreatic acinar cells but are highly expressed in islet cells abs#495 Jared Chang Quantitative ELISA analysis of potentially prognostic biomarkers, Serum Amyloid Alpha and Apolipoprotein-CII, in pancreatic cancer sera abs#496 Andrew Holland Generation and characterisation of Embryonic Stem Cell derived pancreatic progenitors abs#497 Amber Johns Development of a biological resource for genomic characterisation of pancreatic cancer abs#498 Prabhdeep Nain Seven Year Experience of Pancreatic Necrosectomy at a Single Centre in North India abs#499 Michelle Thomas CanSto Pancreas: An Information Management System for Clinico-Pathological and Biospecimen Data abs#500 Satpal Virk Bowel Complications following Pancreatic Necrosectomy - Pattern and Management abs#501
ESA and SRB Poster Presentations Bree Cawsey A specific role for estrogen in mast cells: implications for prostatitis and prostate cancer? Simon Chau The effects of eotaxin (CCL11) on trophoblast cell function abs#503
abs#502
Vincent Harley Failure of SF1-SRY synergy underlies 46,XY DSD with SF1 mutations abs#504 Vincent Harley ATRX is a Sertoli cell survival factor and regulator of spermatogenesis via interaction with Androgen Receptor abs#505 Vincent Harley Antagonism of the Testis-Specific Enhancer of SOX9 - an 'anti-testis' effect of DAX1 abs#506 Sisitha Jayasinghe Salivary cortisol responses to acute psychological stress in lean and overweight/obese men abs#507 Sarah To TNFα mediated regulation of aromatase expression via Early Growth Response factors in Breast Adipose Fibroblasts abs#508 Huy Tran Interferon-α, Hepatitis C And Graves' Disease: Characteristics And Long Term Outcome abs#509 Huy Tran Thyroid Disease Is A Favorable Prognostic Factor In Achieving Sustained Virologic Outcomes In Chronic Hepatitis C Treated With Combination Interferon-Α And Ribavirin: A Nested Case Control Study abs#510 Vijayaganapathy Vaithilingam Anchoring of heparin on alginate microcapsules – Implications for enhancing biocompatibility of bioartificial pancreas abs#511 Adam Walker Postnatal bacterial exposure alters gonadal hormones, testicular morphology and age of puberty onset in rats abs#512 Additional ESA and SRB Posters Linda Gallo Long-term alteration in maternal blood pressure and renal function after pregnancy in normal and growth restricted rats abs#57 Tilini Gunatillake Homeobox gene TGIF-1 is an important regulator of placental endothelial cell function abs#58 Jordana Master Being born small programs altered embryo development and function in the next generation abs#83 Luba Sominsky Postnatal bacterial exposure produces transgenerational inheritance of anxiety-like behaviour: Role of microglial activation and histone acetylation abs#84
AVBS Poster Presentations Gerard Chan + Endothelial cells and their microparticles play an important immunomodulatory role in CD4 and + CD8 T cells in cerebral malaria abs#513 Yuen Ming Chung S100A12 suppresses pro-inflammatory but not pro-thrombotic functions of serum amyloid A in monocytes/macrophages abs#514 Sanja Coso Murine and human lymphatic endothelial cells show similar marker profiles and migratory properties abs#515 Sharissa Latham Endothelial vesiculation agonists evoke specific modifications to both cytoskeletal components and plasma membrane morphology abs#516
Guei-Sheung Liu Regulation of angiogenesis by transforming growth factor- β in vitro and in vivo involves NADPH oxidase type 4 abs#517 Zerina Lokmic Innervation of infantile haemangioma abs#518 Annateresa Papazzo The effect of canola oil intake on oxidative stress in the vasculature abs#519 Harald Schmidt Inhibition of NADPH oxidases: A new strategy to treat hypertension and ischemia/reperfusion injury abs#520 Additional AVBS Posters Jian Qiao A patient with myelodysplastic syndrome and an acquired defect in platelet response to collagen helps redefine the signalling pathway leading to GPVI shedding abs#64 Sapna Devi Glomerular inflammation induces persistence and intravascular migration of neutrophils in glomerular capillaries abs #67 Eunice Yang CEACAM2 negatively regulates platelet-collagen interactions and thrombus growth in vitro and in vivo abs #69
ASA Poster Presentations Zina Biabangardi The relationship between critical thinking skills and disposition in postgraduate students of Iran university of medical sciences and health services abs#521 Dorothy Bruck Sleep quality, beliefs and attitudes about sleep: A comparison of Caucasian Australian, Zimbabwean and Ghanaian immigrants resident in Australia abs#522 Dorothy Bruck Sexual violence as a predictor of sleep difficulties in a community sample of young women abs#523 Dorothy Bruck Development of a community scale on sleep beliefs and attitudes abs#524 Dorothy Bruck Food intake frequency, meal size and timing in narcolepsy abs#525 Rosemary Horne Effects of sleeping position on autonomic cardiovascular control in infants abs#526 Rosemary Horne Does sleep position affect arousal from sleep pathways in infants born preterm? abs#527 Rosemary Horne Effects of sleep disordered breathing severity on blood pressure in primary school children abs#528 Lauren Nisbet Are cardiovascular parameters in 3 to 5 year old children altered by Sleep-Disordered Breathing? abs#529 Pallavi Prathivadi Effect of dummy-sucking on infant arousability: a mechanism for the protection against SIDS? abs#530 Naomi Rogers Differential Sleep-wake Patterns of Bipolar Disorder and Attention Deficit Hyperactivity Disordered in a Younger Population abs#531
Naomi Rogers Sleep-wake Patterns on Weekend versus Weekday Nights in a Younger Population with Mood Disorders abs#532 Mohammad Torabi Nami MD The impact of depression and anxiety on sleep quality indeces abs#533 Lisa Walter Sleep disordered breathing does not effect sleep stage-specific regulation of heart rate in primary school aged children abs#534 Khosro Sadeghniiat-Haghighi Multivariable Apnea Prediction Index as a useful screening tool for Obstructive Sleep Apnea in Iranian sleep clinic patients abs#810
Tuesday Lunchtime Poster Session 12:30 PM - 1:30 PM
Exhibition Hall
CSANZ/ISHR Poster Presentations Jonathan Bensley Preterm birth has injurious and persistent effects on the structure and composition of the aorta and pulmonary artery abs#543 Bianca Bernardo microRNAs-210 and -34a: small molecules with big potential for the treatment of cardiovascular disease abs#544 Tristan Harding 2+ Male and female cardiomyocyte Ca handling and contractility is differentially regulated in the primary hypertrophic heart abs#545 Shining Su Optimization of a fully implantable small animal infusion model involving multi-pressure data collection abs#546 Li Sze Yeo N-acetylcysteine antioxidant treatment reduces oxidative stress but does not improve cardiac contractile function in lamin A/C-deficient mice abs#547 Additional CSANZ/ISHR Posters Geeta Sapra Co-induction of HSP70 with a novel therapeutic agent protects against atrial fibrillation in mice abs #140 Kate Weeks Targeting novel PI3K(p110α)-regulated genes to improve function of the failing heart: identification of Grb14 mediating cardioprotection abs #142
Poster Session II - Tuesday 5:30 PM - 6:30 PM
Exhibition Hall
HGSA Poster Presentations Biochemical Genetics Ahmad Alodaib Experience with a UPLC-MS/MS method for analysis of branched chain amino acids in dried blood spots abs#548 Ahmad Alodaib Evaluation of the use of dried blood-spot homocysteine measurement for neonatal detection of homocystinurias abs#549 Barbara Dennison Modelling of food groups to meet recommended dietary requirements on varying reduced protein intakes in four age groups abs#550 Janice Fletcher Regional Differences in the Diagnosis Rates of Niemann Pick C in Australia abs#551
Won Tae Kim Screening for Primary Congenital Hypothyroidism: Comparison of Fluoroimmunoassay work platforms abs#552 Christopher Manning First Queensland patient with heterozygous mutation in ABCB4 presenting with fibrosing cholestatic liver disease abs#553 Avantika Mishra Infantile Sialic Acid Storage Disease – A Rapid Diagnosis by MSMS abs#554 Merryn Netting Evaluation of an Education Day for Caregivers of Adults with Phenylketonuria abs#555 Heidi Quinn Quality of Life and MRI Changes in Hemizygote Male and Heterozygote Female Patients with Fabry Disease abs#556 Carolyn Shalhoub Variability in Cystic Fibrosis Sweat Test Analysis Reporting abs#557 Michel Tchan Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase abs#558 Susan Thompson Updating the ASIEM Galactosaemia Handbook - challenges and changes abs#559 Simone Tregoning A case study in Pyruvate Dehydrogenase deficiency and the importance of clinical information for diagnosis abs#560 Lan Trieu Newborn Screening for Carnitine Uptake Defect in Victoria abs#561
Cytogenetics Tiffany Bowen Coexistence Of The Philadelphia Chromosome And Inversion 16 During Blast Crisis In Chronic Myeloid Leukaemia: A Case Report On This Rare Occurrence abs#562 Jenny Chan Prenatal diagnosis of balanced and unbalanced translocations using the Affymetrix® Cytogenetics Whole-Genome 2.7M Array abs#563 Manisha Chauhan FLT3 and NPM1 Testing in Cytogenetically Normal AMLs – A laboratory experience abs#564 Ann Galang A case of mosaic trisomy 22 with literature review abs#565 Tina Lillis A case of AML with minimal differentiation in a Werner syndrome patient abs#566 Reena Md Zin Single nucleotide polymorphism (SNP)- based array complements classical cytogenetics in detection of chromosomal aberrations in Wilms tumor abs#567 Saira Mohamed Yousoof Identification of Novel Disease Genes in Anterior Eye Disorders abs#568 Anna Ritchie MICROARRAY: Discovery of an asymptomatic male with a DMD gene mutation abs#569 Tania Shipton Constitutional mosaicism for monosomy X and trisomy 18: clinical presentation and evidence for the origin of the aneuploid cell lines abs#570 Nisha Singh The utility of Cytogenetic SNP arrays for the detection of clonal changes in myeloproliferative disease abs#571 Moh-Hong Yip Problem findings and use of QF-PCR in prenatal testing abs#572
Adrian Zordan Telomeric loss and breakage-fusion-bridge cycles: a mechanism for genetic amplification, ring formation and dicentric chromosome development leading to inherent genomic instability abs#573 Adrian Zordan “Double hit” lymphoma with 13q amplification abs#574
Ethics Juliana Lee Psychosocial and Genetic Counselling Issues in Prenatal Diagnosis for Serious Genetic Conditions at University Malaya Medical Centre abs#575 Cara Mand “It's better to know than not know” First hand accounts of predictive genetic testing in adolescents for adult onset conditions abs#576 Muflihatul Muniroh Physical and Psychological Dilemma in Late Identified Congenital Adrenal Hyperplasia (CAH) abs#577
Genetic Counselling Alice Ames Can the multidimensional measure of informed choice (MMIC) measure informed decision making in population carrier screening for fragile X syndrome? abs#578 Michael Bogwitz Genetic counsellors' perceptions of the blurred boundaries between clinical research and clinical care abs#579 Michael Bogwitz Cancer In My Family (CIMF): a new online support group for people with familial cancer risk abs#580 Linda Cicciarelli Evaluation of patients' experiences of a telephone genetic counselling appointment abs#581 Helen Curd Tay Sachs Population Carrier Screening in the Ashkenazi Jewish Community: An evaluation of the TSD carrier screening program in Melbourne high schools abs#582 Sarah Doak Sharing the News – uptake of predictive genetic testing within families with a familial colorectal cancer syndrome abs#583 Sultana Faradz Genetic counseling in families with multiple affected individuals of Disorder of Sex Development: The impact of culture in Indonesia abs#584 Lindsay Fowles When fears collide: a case report exploring the cancer anxiety of a balanced translocation carrier abs#585 Kim Frumar What Determines the Level of Satisfaction For Clients of the Outreach Genetic Counselling Services In The Mid-North Coast, NSW? abs#586 Lyndon Gallacher Relatives' Experiences of Communicating Genetic Information following the Unexpected Death of a Family Member due to an Inherited Cardiac Condition abs#587 Annette Hattam Clinical Supervision: The Tyranny of Distance abs#588 Lindy Hodgkin Discussing familial cancer with the Chinese community: What are the barriers in accessing FCC services? abs#589 Jennifer Hogan Unintended Diagnosis of Von Hippel Lindau Syndrome using Array Comparative Genomic Hybridisation (CGH) abs#590
Bruce Hopper Referrals – the various paths for an individuals journey abs#591 Alice Horwood Health Professionals' Views on Perinatal Hospice Care: Implications for Genetic Counselling Practice abs#592 Janan Karatas A prospective study assessing anxiety, depression and maternal-fetal attachment in women using PGD abs#593 Maira Kentwell Hereditary Non-Polyposis Colorectal Cancer And Familial Adenomatous Polyposis: Information Days For Families abs#594 Kathleen LeMarquand Case study: Herlitz junctional epidermolysis bullosa. Genetic counselling challenges in a highly consanguineous new migrant family abs#595 B Meiser Attitudes and information needs of women newly diagnosed with ovarian cancer regarding treatment-focused genetic testing abs#596 B Meiser An online screening decision aid for men with a family history of prostate cancer: development and pilot-testing abs#597 B Meiser Acceptance, experiences and information preferences of young women newly diagnosed with breast cancer regarding treatment-focused genetic testing abs#598 Kristi Murphy Prenatal Diagnosis of a Skeletal Dysplasia-Genetic and Counselling Challenges abs#599 Jessica Nagy The uptake of predictive testing in Long QT syndrome and Hypertrophic Cardiomyopathy abs#600 Jean Paul Exploring paediatric genetic consultations: Implications for training abs#601 Jacqui Robinson The Effect on Families of Having a Child with a Metabolic Condition abs#602 Hannah Shipman Managing consent to microsatellite instability testing in clinical practice abs#603 Skye Simpson Making Choices: Deciding to test for fetal abnormalities in pregnancy abs#604 Samantha Steele Review of the use of BOADICEA in Determining Eligibility for BRCA1 and BRCA2 Mutation Screening under the Public Health System abs#605 Jenny Stofmeel Outreach Rural Genetic Counselling – Developing a New Model of Care abs#606
Genetic Education Catherine Bonifant A Study of the Body Composition of Children and Adolescents with Phenylketonuria (PKU) abs#607 Nicole Cousens “He didn't say thalassaemia might come up” - experiences and attitudes of carriers in Victoria abs#608 Chriselle Hickerton A very simple thing to do”: Experiences of adolescents and their parents, of participating in genetic screening for haemochromatosis in Victorian high schools abs#609 Lynne Purser Translating evidence based research into a tool for consumers abs#610
Belinda Rahman Challenges for Adolescent Patients: The Experiences of Young People with Implantable Cardioverter Defibrillators abs#611 Maria Baluyot Two cases of prenatally detected i(18)(q10) with contrasting outcomes abs#612 Anne Jay An unusual QF- PCR result - Xq28 duplication or a rare polymorphism? abs#613 Sibel Saya The Experience of Parents who Continue a Pregnancy After a Diagnosis of a Life-Limiting Condition in Their Baby abs#614 Bernadette Hanna Reiger Anomaly due to a FOXC1 gene deletion: Look beyond the eyes abs#615 Additional HGSA posters Ruth MacKinnon Narrowing the 5q31 Deleted Region in Myelodysplastic Syndromes abs#033 Rhonda Akroyd Liver transplant for maple syrup urine disease - a first for New Zealand abs#036 Heidi Peters Treatment of a Methylmalonic aciduria mouse model with intra-liver transplantation of a developed novel liver progenitor cell line abs#071 Lucinda Freeman New directions: establishing a multidisciplinary clinic for the inherited Porphyrias abs#120 Patricia Hershberger Understanding high-genetic-risk couples' decisions regarding preimplantation genetic diagnosis in the United States: insight into family planning strategies abs#122
MEPSA Poster Presentations Scott Byrne UV-induced uric acid activates the NALP3 inflammasome and suppresses systemic immune responses abs#616 Jessica Collins Immunological Response to Neonatal UVR and Metallothionein abs#617 Griffin D'Costa A Comparison Between Zinc Oxide Nanoparticles and Organic UV Filters in UV-irradiated HaCaT Cells abs#618 Abdulkareem Elbaz Immunotoxic effects of ZnO and TiO2 nanoparticles on murine mast cells abs#619 Elizabeth Fletcher The effect of UV radiation on MMP activity and secretion of TNFα from human keratinocyte cell lines abs#620 Andrew Hastings Immunotoxicology of silver nanoparticles in vitro: kinetics of cytotoxicity abs#621 Katharine Herbert Modeling Epigenetic Factors in Disease – A Case for Arsenic Toxicity abs#622 Nicholas Hunt Immunopathogenesis of cerebral malaria abs#623 P Jansson A Novel Targeting Strategy for the Design of New Chemotherapeutics: Activating the Lysosomal Apoptotic Pathway abs#624
Roslyn Malley Vitamin D3 influences skin draining lymph node dendritic cells in neonatal male mice abs#625 Visalini Muthusamy Do cerium oxide nanoparticles protect skin cells from UV radiation? abs#626 Nikolas Patsikatheodorou The effects of ZnO and TiO2 nanoparticles in UV-irradiated HaCaT cells abs#627 Terrence Piva The effect of antioxidants on the release of TNFα from human melanocytes and melanoma cells exposed to UV radiation abs#628 Rethika Ravi The Role Furin Plays In The Activation Of MMPs In UV-Irradiated Human Keratinocyte Cell Lines abs#629 Wayne Reilly TM : Hemaview A Clinical Useful Tool for the Evaluation of Red Blood Cell Parameters in Preclinical States abs#630 Wayne Reilly Treatment of Juvenile Rheumatoid Arthritis with Interferential Frequency (FSM) and monitoring with TM Hemaview following Medication Associated-Morbidity: A Case Study abs#631 Shruti Saptarshi Characterization of nanoparticle protein corona formation in tissue culture medium for commercially important zinc oxide nanoparticles abs#632 Elizabeth Snow Environmental exposure to arsenic - assessing risks and doses abs#633 Cesar Tovar A tumour-specific diagnostic marker for transmissible facial tumours of Tasmanian devils: immunohistochemistry studies abs#634 Emma White Effect of scymnol on acute and chronic ethanol exposure in rats abs#635 Lauren Young Regulation of immunity in marsupials: identification and expression of T helper cell cytokines abs#636 Additional MEPSA Poster Sean O’Keefe Effect of Nanoparticles and Organic UV Blockers on UVA Exposed Immune Cells abs#352
ANZBMS Poster Presentations Jillian Cornish Osteoblast Growth in Three-Dimensional Collagen Gels with and without Hydroxyapatite abs#637 Robin Daly Prevalence of Vitamin D Inadequacy and Determinants of Serum 25-hydroxyvitamin D Levels Among Australian Adults: A National, Population-based Study (AusDiab) abs#638 Terry Golombick Vitamin D Status may effect the Skeletal complications of Multiple Myeloma abs#639 Cory Xian Osteogenesis to adipogenesis differentiation switch, bone loss and marrow adiposity after methotrexate chemotherapy abs#640 Additional ANZBMS Poster Farzin Takya Osteoblastic EphrinB2 is required for normal osteoblast and osteoclast differentiation abs#150
Poster Session III - Wednesday 5:30 PM - 6:30 PM
Exhibition Hall
MBSANZ Poster Presentations Elham Aliizadeh Pasdar Circulating Endothelial Progenitor Cells (EPCs) of Clinical Course and Avastin Resistance in Late Stage Colon Cancer abs#641 Naomi Baker The Complexities of Genotype-Phenotype Correlation for the Collagen VI Muscular Dystrophies abs#642 Sharon Byers Established MPS VII bone disease is reversed by lentiviral-mediated gene therapy abs#643 Maria Cotta In Vitro Adipogenic Activity Of An Adipose Derived Extracellular Matrix abs#644 Ainslie Derrick Roberts Skeletal disease in Mucopolysaccharidosis type I abs#645 Ainslie Derrick Roberts Mechanism of GAG synthesis inhibition by F-GlcNAc and Rhodamine B abs#646 Yiwen Fang New mechanisms of nonsense-mediated mRNA decay revealed by studies on COL10A1 mutations abs#647 Matilda Jackson Mesenchymal stem cells: to divide and conquer MPS abs#648 Christopher Kintakas The regulation and function of the ADAMTS proteoglycanases in the C2C12 in vitro cell model of skeletal muscle development abs#649 Hansen Kosasih Evidence that ADAMTS-5 is a dimer abs#650 James Lyons Clonal cooperation in the evolution of the invasive phenotype in cancer abs#651 Michiko Mirams Differential gene expression in osteochondrosis lesions abs#652 Vanisri Raviraj Molecular and functional characterisation of tumour cell protrusions during migration in dense matrices abs#653 Fraser Rogerson An aggrecanase other than ADAMTS-4 or ADAMTS-5 cleaves aggrecan in vivo abs#654 Adam Smith The expression and developmental role of adamts5 in the zebra fish (Danio rerio) abs#655 Joshua Smith LTBP-2 is highly expressed in hypertrophic skin disorders abs#656 Liliana Tatarczuch Ultrastructural analysis of murine neo-cartilage: comparison with juvenile and adult native articular cartilage abs#657 Liliana Tatarczuch The morphology and distribution of light and dark chondrocytes in rat growth cartilage abs#658 Jason White Proteoglycan re-modelling during skeletal muscle regeneration abs#659
ANZORS Poster Presentations Melissa Cantley Histone deacetylase (HDAC) expression in Human Peri-prosthetic osteolysis tissue and the effect of a HDAC inhibitor on bone loss abs#660 Tania Crotti The increased expression of ITAM factors in active RA may be involved in modulating the pathophysiological process of rheumatoid arthritis abs#661 Laura Gladkis Correct three-dimensional characterization of realistic UHMWPE debris particles abs#662 Jung Joo Kim Does microgrooving a substrate influence tenocyte behavior? abs#663 Ian Parkinson Increased density of hypermineralised osteocyte lacunae and microdamage accumulation in fragility hip fracture patients abs#664 Ian Parkinson Predicting whole vertebral body strength using bone mineral density assessed via DXA and microarchitecture assessed via micro-CT abs#665 Lauren Peacock Homozygous Deletion Of The Sost Gene Results In Faster And Increased Hard Callus Formation abs#666 Marieke Pudlas Zonal characteristics of articular cartilage and chondrocytes by Raman microspectroscopy abs#667 Lihai Zhang Computational Modelling of the Insulin-Like Growth Factor System in Articular Cartilage abs#668 Additional ANZORS Posters Muhi Abdullah CT to Single-plane Fluoroscopy Registration: A non-invasive and viable alternative to RSA abs#249 Geetha Mohan Application of in vivo micro-computed tomography in the characterization of a rat model of osteoarthritis abs#252 Matthew Broadhead Pigment epithelium-derived factor (PEDF) inhibits tumour growth and metastasis in a clinically relevant murine model of advanced osteosarcoma abs#355
ASMR Poster Presentations Latasha Abeynaike T cell subset-specific usage of endothelial selectins for leukocyte rolling during a multiple challenge model of skin inflammation abs#669 Linda Agnew Echinacea induced hsp70 alterations in leukocytes abs#670 Linda Agnew Effects of echinacea supplementation on alkylamide pharmacokinetics abs#671 Ireni Ali Rahman Characterisation of the Akimba mouse: a model of diabetes and retinal neovascularisation abs#672 Fouziah Alqurni The Immune Response of Cystic Fibrosis Patients to an epidemic strain of P. aeruginosa Fouziah 1, 1 1 1,2 1 Alqurni Louise Roddam , Margaret Cooley , and David Reid Menzies Research Institute, Unive abs#673 David Anderson Rapid, Immunochromatographic Test for Measurement of CD4+ T-cells at Point-Of-Care abs#674
Tahmina Anwari Impact of circadian rhythm on regulation of the IGF-1/insulin signalling pathway abs#675 Carlos Aya-Bonilla Microsatellite analysis of Loss of Heterozygosity (LOH) at 3p21.31, 11p11.2 and 15q15.2 regions in non-Hodgkin's Lymphoma (NHL) abs#676 Nady Braidy + Age and Organ Dependent Changes in NAD Metabolism in Aged Female Wistar Rats abs#677 Gloria Castellano Neuroprotective effects of resveratrol and epigallocatechin gallate on ADF/cofilin-actin rod formation in human primary neurons abs#678 Fiona Collier Expression of Rhotekin-2 (RTKN2) in Human Regulatory T-cells and Evidence for Transcription by FoxP3 abs#679 Carina Cowley Evidence for the acute phase response being central to the mechanism of teratogenesis abs#680 Leah Cui Viral protein Nef is a key regulator of ABCA1 function and cholesterol metabolism in infected macrophages abs#681 Maria-Anna D'Souza Action of EBC-46, a novel diterpene ester, on human and mouse tumours abs#682 Nicole De Weerd Biological effects of a missense mutation in IFNAR1, the low affinity receptor of the type I IFN signaling complex abs#683 Rino Donato WNT expression during postnatal growth of the small intestine in infant rats abs#684 Nathan Downs Lawn bowls and solar ultraviolet radiation in Australia: Exposures, risks and potential benefits for the production of vitamin D abs#685 Jerzy Dyczynski The “intelligent Heart and hibernating Brain” The new cardio-brain stress theory. The heart induced hibernating brain is a precursor to the development of Alzheimer's Disease abs#686 Diako Ebrahimi Has APOBEC3 left its footprint on the HIV-1 genome? abs#687 Fatima El-Assaad Circulating microparticles are effectors of the neurological lesion in experimental cerebral malaria abs#688 Fatima El-Assaad Citicoline: therapeutic implications for the treatment of cerebral malaria abs#689 Fehmida Fasim Trans-planaramineplatinum(II) complexes containing acetate leaving groups; synthesis, characterization, interaction with pBR322DNA, and in vitro antitumour activity abs#690 Ross Grant Polyphenol combination therapy enhances NAD+ levels and improves DNA repair after UVB damage in primary human keratinocytes abs#691 Jade Guest Ώ-3 and Ώ-6 Polyunsaturated Fatty Acids levels in a cohort of Australian Adolescents abs#692 Pamela Hall MIF and CD74 promote chemokine-inducedmacrophage migration via common and independent pathways abs#693 Seungmin Ham The LKB1/CRTC pathway may be involved in regulating aromatase in the testis abs#694 Brad Hayward A Gene Expression Signature for Insulin Resistance mediated by Excess Fat abs#695
Deborah Hilton Left ventricular hypertrophy (LVH) diagnosis – a systematic review and the effect of publication bias abs#696 David Hooker Absolute apoptosis measurement from minute tissue samples by merging ligation-mediated PCR and qPCR abs#697 Ivan Hooper What has a Cardiomyopathy Protein got to do with Cancer?? abs#698 Kin Ip Effects of cannabinoid CB1 signalling on liver steatosis are mediated by microRNA-122 abs#699 Demelza Ireland Regulatory T-cell mediated anti-tumour immunotherapy abs#700 Demelza Ireland Inhibition of established subcutaneous murine tumour growth with topical Melaleuca alternifolia (tea tree) oil abs#701 Hairuszah Ithnin Immunohistochemical analysis of HER-2 in Helicobacter pylori associated chronic gastritis and gastric cancer in Malaysian patients abs#702 Tom Karagiannis Imaging atherosclerotic plaques using radionuclides abs#703 Tom Karagiannis Olive phenolics protect cells from radiation-induced cytotoxicity abs#704 Tom Karagiannis Diabetic wound healing: effects of dietary compounds on human keratinocytes and microvascular endothelial cells abs#705 Tom Karagiannis Phosphorylation of H2AX as an epigenetic marker of DNA damage, ageing and disease abs#706 Stacey Keep Disruption of early endosome interaction with Helicobacter pylori phagosomes abs#707 Jason Kelly Copy number variation in the CTDSPL gene and prostate cancer abs#708 Anton Kolosov Antihyperalgesic Effects of the Neuroactive Steroid Alphadolone in a Rat model of ChemotherapyInduced Neuropathic Pain abs#709 Jennifer La Targeting HIV-1 reverse transcriptase with fragment screening abs#710 Jong-Min Lee Characterization of the kynurenine pathway in motor neuron: relevance for amyotrophic lateral sclerosis abs#711 Huei San Leong Smchd1 is a novel epigenetic modifier involved in X chromosome inactivation, that also behaves as a tumour suppressor abs#712 Doris Lin Absence of Tigger-derived transposable elements in mammals is compatible with development and full reproductive capacity abs#713 Sheree Martin Role of SEPS1 during differentiation of C2C12 skeletal muscle cells abs#714 Mohammed Mazumder Synergism from combinations of palladiums and thymoquinone in ovarian cancer cell lines abs#715 Andrew Mitchell Resident tissue macrophages: novel methods and biological insights during health and infection abs#716
Nur Akmarina Mohd Said Development of an epithelial reporter system for high content screening abs#717 Hayley Mountford Identification of Novel Genes Involved in Brain Development abs#718 Meher Nessa Sensitization of ovarian cancer cells to cisplatin by phytochemicals abs#719 Samantha Oakes The BH3-mimetic compound ABT-737 as an effective therapeutic strategy against basal-like breast cancer abs#720 Victoria Oliver Sex steroids regulate adenylate cyclase activity and intracellular calcium in stromal cells derived from human prostate abs#721 Wei-Ren Pan The Morphology of the Human Lymphatic Vessels in the Head and Neck abs#722 Wei-Ren Pan Blood Supply to the Lymphatic Vessels in the Leg: An Incidental Finding abs#723 Maryam Rouhi Differences between primigravidae and multigravidae mothers in postpartum depression and fatigue abs#724 Ali Salajegheh Potential roles and involvement of miRNAs in angiogenic event in thyroid cancer abs#725 Chrishan Samuel Castration protects, while testosterone exacerbates cardiac fibrosis in ageing relaxin-deficient mice abs#726 Michael Sax Chemokine signalling and bone-marrow mediated tumour vascularization and spread abs#727 Mahmood Shahin Carcinogenesis of Aflatoxin B1 on Rats as a Model for Human abs#728 Robert Smith Matrix Metalloproteinase 2 Correlates With Clinopathological Markers Of Aggression In Breast Cancer abs#729 Dhanya Sooraj Exploring The Cellular And Molecular Basis Of The Development Of Castrate Resistant Prostate Cancer abs#730 David Speicher Post Liver Transplant Patient Presenting With HHV-8 Associated Multicentric Castleman's Disease: The Role Of Qpcr abs#731 David Speicher Evaluation of a new commercial Kit for the salivary diagnosis of HHV-8 and other viruses abs#732 Nicole Stupka SEPS1 gene suppression has distinct effects on palmitate-induced oxidative and ER stress responses in proliferating C2C12 myoblasts compared to differentiated C2C12 myotubes abs#733 Bandar Suliman The Role of PLZF in Shaping Oncogenic Characteristics of Cancer Cells abs#734 Gayathri Sundaram Expression of kynurenine pathway genes in experimental autoimmune encephalomyelitis mice treated with kynurenine pathway analogues abs#735 Xiahui Tan Asthmatic airway smooth muscle cell CXCR3 ligand production: JAK-STAT involvement abs#736 Juliet Taylor Evidence for the involvement of RanBPM in tau pathology abs#737 Evelin Tiralongo The efficacy of Echinacea in preventing respiratory illness for air-travellers abs#738
Katherine Ververis Effect of histone deacetylase inhibitors on doxorubicin-induced hypertrophy in cardiomyocytes abs#739 Daniel Wallace Blunted hepcidin response to inflammation in the absence of Hfe and Tfr2 abs#740 Hua Wei Thermo-responsive Hybrid Micelles with Anti-Tumor Efficacy abs#741 Catherine Winbanks Deletion of S6 Kinase does not attenuate follistatin-mediated skeletal muscle hypertrophy abs#742 Paul Witting Neuroglobin over-expression in cultured human neuronal cells protects against hydrogen peroxide insult via activating phosphoinositide-3 kinase and opening the mitochondrial KATP channel abs#743 Siew Heng Wong Caspases regulate phagocytosis in maturing dendritic cells abs#744 Anna Zinger Development of an in vitro models of human dopaminergic neurons abs#745 Michael Hahn The tumour suppressor CDC73/parafibromin regulates Histone 2B monoubiquitination both in vitro and in vivo abs#809 Additional ASMR Poster Eleanor Woodward The anti-inflammatory actions of IL-4 in human monocytes occur independently of an early upregulation of IL-10 and CD-180 abs#368
ASI Poster Presentations Brendon Chua Enhancement of protein immunogenicity using Pam2Cys-based lipopeptides: a potential vaccine strategy against influenza viral proteins abs#746 Rebecca Forbes Pregnant Women Have Increased Susceptibility to Respiratory Virus Infection: to Interfere or not to Interfere, That is the Question abs#747 Brad Gilbertson Unmasking a site on the influenza virion targeted by a potent murine salivary inhibitor abs#748 Emma Job Pandemic H1N1 Influenza A Viruses Are Resistant to the Antiviral Activities of Innate Immune Proteins of the Collectin and Pentraxin Superfamilies abs#749 Amabel Tan The TLR-2 agonist Pam2Cys as a novel broad-spectrum anti-viral against influenza A virus abs#750
HGSA Poster Presentations Cancer Genetics Ashley Crook What factors influence individuals when deciding whether or not to contact a family cancer clinic to find out more about their genetic test results as a result of participating in a population based research study? abs#751 Vinod Dagar Causes of epigenetic mutations in a childhood cancer pre-disposition syndrome abs#752
Bente Talseth-Palmer A modern approach to the search for modifying genetic loci influencing the high breast cancer incidence seen in an Australian HNPCC/Lynch syndrome cohort abs#753 Aung Win Risks of cancers for carriers of monoallelic MUTYH mutation with a family history of colorectal cancer abs#754
Clinical Genetics Christopher Barnett Pitt-Hopkins syndrome associated with type 1 diabetes and anorectal malformation in a patient with 18q21.2 deletion abs#755 Christopher Barnett Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis abs#756
Christopher Barnett Drayer's short stature syndrome: report of an additional case of 15q26 microdeletion involving IGF1R and review of the literature abs#757 Matthew Burgess When Occam's razor failed cancer genetics; Birt Hogg Dubé & Attenuated FAP in the same kinship abs#758 Belinda Chong Unfolding complexities in lqt syndrome testing abs#759 Karen Crowe If at first you don't succeed… making the right diagnosis eventually abs#760 Mac Gardner Direct-to-Consumer Genetic Testing abs#761 Anna Hackett Whole genome array results in XLMR patients abs#762 Stefanie Kung Three-Dimensional Quantification of Facial Profiles of Individuals with Syndromes abs#763 Rebecca Lane A complex rearrangement resulting in a 22 Mb deletion at 11q14. -11q22 in a 3 month old child with scleroderma developmental delay and failure to thrive abs#764 Alan Ma Congenital Insensitivity to Pain due to Compound Heterozygous SCN9A Mutations abs#765 Julie McGaughran Cardiac Genetics: the first 250 clinic patients abs#766 Julie McGaughran The Challenges of Array CGH; A Tale of Three Patients abs#767 Gemma Poke Case report: a patient with del 22q11.2 presenting with polyarteritis nodosa abs#768 Sulekha Rajagopalan A New Australian Case of Raine Syndrome abs#769 Bestari Setyawati Testicular formation in a 46, XY Isolated Gonadal Dysgenesis with DAX1 Duplication abs#770 Zornitza Stark Novel KRAS mutation in Cardio-Facio-Cutaneous syndrome: transmission through two generations of a family abs#771 Annabel Sweeney Dietary management of an infant with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency in South Australia abs#772
Elizabeth Thompson A severe neurodevelopmental disorder (“congenital variant of Rett syndrome”) in a boy with a de novo 14q12 deletion detected on microarray abs#773 Elizabeth Thompson A familial PTEN mutation causing macrocephaly and Asperger syndrome and the unusual features of phaeochromocytoma and polydactyly abs#774 Gillian Turner What do we see and what do we do in outreach genetics clinics abs#775 Andrea Twomey Pregnancy following PGD for Generalised Arterial Calcification of Infancy abs#776 Leah Vandervliet Hyperammonemia vs Hypoglycemia A tale of two urea cycle defects abs#777 Kathy Wu Dentatorubral-Pallidoluysian Atrophy (DRPLA) in an Australian family of Chinese descent abs#778
Gene Therapy Vidyaporn Chailertvanitkul Identification of nuclear localisation signal sequences in adenoviral terminal protein abs#779 Lauren Mortimer Quantification of transgene expression from lentiviral vectors containing the F2A sequence in the expression cassette abs#780 Edward Wong Lentiviral-mediated correction of methylmalonic aciduria in vivo abs#781
Genomics/Genomewide Studies Tracy Dudding FRACP The Long and Winding Road: Factor V Leiden and adverse pregnancy outcome abs#782 Izhak Haviv Using genome sequence and transcription factor data to interpret human disease and clinical phenotype-associated genetic variations abs#783 Edwin Kirk Confirmation and Narrowing of Multiple Quantitative Trait Loci Modifying Atrial Septal Morphology abs#784
Molecular Genetics Roksana Armani No Novel Pathogenic TCF4 and MEF2C Sequence Variations identified in RTT Patients abs#785 Elisa Bettella Non-coding elements that regulate MeCP2 expression abs#786 Vanessa Calabro The importance of RNA analysis in interpreting a novel splice mutation abs#787 Belinda Chong Population-based carrier screening for cystic fibrosis in victoria: the first three years experience abs#788 Sarah Clarke NUP214-ABL1 Positive T-Cell Acute Lymphoblastic Leukaemia Patient Shows a Favourable Response to Imatinib Therapy Post-Relapse abs#789 Desirée du Sart Quantification Of Mitochondrial Mutation Mutant Load Using High Resolution Melt Analysis abs#790 David Fairbairn A novel mutation in the erythropoietin receptor gene is associated with primary familial and congenital polycythaemia (PFCP) abs#791 Peter Field CFTR Mutation Screening in an Infertile Population abs#792
Maria Kaps GJB2 mutation spectrum among Australian patients with hearing impairment abs#793 Nigel Laing Mutation of the N-terminal actin-binding domain of filamin C (FLNC) cause a distinct distal myopathy abs#794 Ruth MacKinnon Analysis of Nucleic Acid extracted from Fixed Chromosome Suspensions and Old Refrigerated Bone Marrow Specimens abs#795 Glenda Mullan A Comparison Of Molecular And Cytogenetic Techniques For The Diagnosis Of Pregnancy Loss abs#796 Con Ngo Diagnosis of autosomal recessive genetic disorders using SNP microarray analysis - 2 case studies abs#797 Kristen Nowak Mouse models of dominant ACTA1 disease recapitulate human disease and rovide insight into therapies abs#798 Joesph Sarsero Pharmacological screening for the therapy of Friedreich ataxia abs#799 Tiffany Wotton The Reliability and Feasibility of Newborn Screening for Fragile X Syndrome using a DNA Based First Tier Assay abs#800
Public Health Genetics Kristine Barlow-Stewart Producing genetics education resources for primary care practitioners is just the beginning: challenges in dissemination and engagement abs#801 Sarah Borrie An Exploration of health professionals views on providing a genetic counselling service to families with an unexpected postnatal diagnosis of Down syndrome abs#802 Fiona Cunningham Attitudes Toward Population-based Carrier Screening for Cystic Fibrosis (CF) by CF Healthcare Professionals abs#803 Lauren Hunt First-trimester Screen Biochemistry: Assisted Reproduction vs. Spontaneous Reproduction abs#804 Liane Ioannou 'No thanks'- why pregnant women choose not to have cystic fibrosis carrier screening abs#805 Liane Ioannou Evaluation of a multi-disease carrier screening program in Ashkenazi Jewish high schools abs#806 Gabrielle Reid Shaking the Branches of the Family Tree: Exploring the Impact of Family History Screening in Primary Care abs#807 Kate Scarff Evaluation of a written consent process for newborn screening in Victoria abs#808 Additional HGSA Posters Emma Palmer Affymetrix Cytogenetics Whole-Genome 2.7m Array Testing in a Community Cohort with Intellectual Disability abs#030 Xenia Kaidonis Improvement of central nervous system pathology in murine mucopolysaccharidosis IIIA with ganglioside targeted substrate reduction therapy abs#070
