43rd Human Genetics Society of Australasia (HGSA) Annual Scientific Meeting
to Aug 6

43rd Human Genetics Society of Australasia (HGSA) Annual Scientific Meeting

* Call for Abstracts - Now Open *

On behalf of the Local Organising Committee, we invite you to the 43rd Human Genetics Society of Australasia (HGSA) Annual Scientific Meeting, to be held from 3-6 August 2019 at the Michael Fowler Centre in Wellington, New Zealand.

The theme for the conference is “Winds of Change” to convey the importance of new developments in genetics and genomics (including therapeutics), cancer genetics and engaging with the broader community, in particular indigenous populations. We are attempting to make this conference as sustainable as possible by choosing eco-friendly options wherever possible.

The conference will cover various aspects of human genetics and genomics, with the committee planning sessions around the following topics:

  • New developments in genomic medicine

  • Translation, discoveries and therapies

  • Ethics

  • Engagement with indigenous communities

  • Cancer genetics

Leading international and local luminaries will be presenting over the three days of the conference, as well as in the Special Interest Group (SIG) meetings which are held on the Saturday prior to the Conference.

We look forward to welcoming you to Wellington in August.

Jo Martindale & Alex Henderson
Co-Chairs, Local Organising Committee

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ASDT 2019 - Banding and Beyond; "Taking a Bigger Byte of the Genome"
to Apr 7

ASDT 2019 - Banding and Beyond; "Taking a Bigger Byte of the Genome"

Keynote Speaker: Anne O’Donnell-Luria, MD, PhD (Broad Institute, Boston)

Interim Scientific Meeting | 5-7 April 2019 | Hotel Grand Chancellor, Adelaide, South Australia

Abstract Submission and Registration now open.

Register now to secure your place and get involved by submitting ans abstract.

Apply for the Ed Krumins Young Scientist Award or Poster Prize.

Hot topics include a Variant Interpretation Workshop, advance in prenatal diagnosis (NIPT and maternal cell contamination), new developments in cancer genetic diagnosis.

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AGTA 2018 Annual Conference - Stamford Grand Adelaide
to Nov 7

AGTA 2018 Annual Conference - Stamford Grand Adelaide

AGTA18 will cover all aspects of genomic science, technologies and their applications. Research sessions include Cancer Genomics, Neurogenetics, Bioinformatics, Computational Biology, Plant and Animal Genomics, Microbial and Metagenomics, Ancient DNA as well as highlights of emerging genomic technologies.

Keynote Speakers
Daniel Geschwind – University of California, Los Angeles
Elizabeth Dinsdale - San Diego State University
Jim Haseloff - University of Cambridge
Kevin White - The University of Chicago
Ludovic Orlando - University of Copenhagen
Marlon Stoeckius - New York Genome Center
Taru Tukiainen - University of Helsinki

Key Dates
Early Bird Registration Deadline August 10
Abstract Submission Deadline (Poster) August 27
Final Program Available September 3

For more information and to register please visit the web site.

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Bench to Bedside and Back   15th One-Day Symposium of the HGSA-SA Branch
9:00 AM09:00

Bench to Bedside and Back 15th One-Day Symposium of the HGSA-SA Branch


Friday 21st September 2018, The Grange Golf Club


Dr Mike Field
Genetics of Learning Disability Service
Hunter Genetics, NSW

Dr Raman Sharma Neurogenetics Research Group Robinson Research Institute

Miss Alicia Byrne
Molecular Pathology Research Laboratory Centre for Cancer Biology

Assoc. Prof Maria Fuller Genetics and Molecular Pathology SA Pathology
Assoc. Prof Chris Barnett Paediatric and Reproductive Genetics Unit Women’s and Children’s Hospital

Dr Drago Bratkovic
Metabolic Clinic Women’s and Children’s Hospital

Dr Nicola Poplawski
Adult Genetics Unit Royal Adelaide Hospital

Prof Doug Brooks
Mechanisms in Cell Biology and Disease Research Group Sansom Institute for Health Research

We are excited to announce The Grange Golf Club as our new venue and catering team for the 2018 Symposium

To register, please complete the attached registration form
For additional copies, please contact alicia.byrne@mymail.unisa.edu.au

Registration closes: Friday, 7th September 2018  Be quick, limited registration places available!


Silver Sponsors

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Rare Disease: Australian Functional Genomics National Conference
to Sep 15

Rare Disease: Australian Functional Genomics National Conference

The Rare Disease: Australian Functional Genomics National Conference will bring together the diverse model systems communities involved in disease gene discovery and characterisation, with the aim of enabling the rapid translation of genomics findings to a diagnosis of disease.

Invited speakers will showcase the increasing need for functional genomics in the patient diagnosis pipeline and the benefits and logistics of an array of model organism research for variant classification and therapeutic screening.

Abstract Submission open now and close August 13th

Check here for the more information, the program, registration and abstraction submission.

International Speakers:

Prof. Phil Beales, UCL Great Ormond Street Institute of Child Health
Diagnosis of rare genetic disorders and understanding the molecular basis of disease.

Prof. Steve Brown, MRC Harwell Institute
Deciphering the genetic bases of disease: the role of the mouse 

Featured National Speakers:

Prof. Kathryn North, Prof. Andrew Sinclair, Prof. Ian Alexander, Prof. Kieran Harvey, A/Prof. Ben Hogan, Dr. Mark Corbett, A/Prof. Shane Grey, Prof. Steve PetrouProf. Richard Harvey, Prof. Sally DunwoodieDr Alan Rubin, A/Prof. Alice Pebay, Prof. Sandra Cooper, A/Prof. Bruce Bennetts, Dr Emma PalmerDr Zornitza Stark

 Venue: Bio 21 Auditorium

Address: Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Unit 400/30 Flemington Rd, Parkville VIC 3052

Date/Time: 10 am Friday September 14th – 1:30 pm Saturday September 15th 

Social Function: 6:30-9:30 pm Friday September 14th @ Melbourne Museum

(included in your conference registration ticket)


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Cancer Research Day
1:00 PM13:00

Cancer Research Day

Research Afternoon

FCIC Ground Floor Function Room Tuesday 4th September

1.00 pm – 7.30 pm

This afternoon is part of an extensive Health Research Symposium.

A/Prof. Michael Michael, Head, Gene Expression Laboratory, Flinders Centre for Innovation in Cancer will be presenting a short overview of Epigenetics, Genetics and Genomics at 1.50 pm.




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Prof David Adelson: "How DNA sequencing will change your life."
6:25 PM18:25

Prof David Adelson: "How DNA sequencing will change your life."

Prof David Adelson is the Chair of Bioinformatics, and the Zhengdong Chair of Molecular Traditional Chinese Medicine in the School of Biological Sciences. Prof. Adelson is also Co-Director (with Prof Gary Glonek) of the Bioinformatics Hub. His current research focuses on the non-coding portions of animal genomes, and the computational analysis of repetitive DNA, also known as Junk DNA, in order to understand large scale evolutionary/structural changes in the animal genomes. His group also looks at the complex molecular effects of Traditional Chinese Medical to provide a molecular basis for understanding the mode of action of TCM and support its integration into Western Medicine. 

Prior to moving to Adelaide in 2007, Prof Adelson worked at Texas A&M University from 2001, and before that worked for CSIRO from 1988. Prof Adelson obtained his PhD in Biomedical Sciences (Biochemistry), from the John A Burns School of Medicine at the University of Hawaii at Manoa in 1985 and carried out postdoctoral research at Duke University.

This session is part of the Game Changers in Science presentation by the Faculty of Sciences, University of Adelaide at:

Ira Raymond Exhibition Room
Barr Smith Library
North Terrace Campus, Adelaide
Adelaide, SA 5005

Please register through this link https://www.eventbrite.com.au/e/game-changers-in-science-tickets-48827907586

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A Repeat Offender: Epstein- Barr Virus in Autoimmunity and Other Disease Mechanisms
3:00 PM15:00

A Repeat Offender: Epstein- Barr Virus in Autoimmunity and Other Disease Mechanisms

Professor John B. Harley

Director, Centre for Autoimmune Genomics and Etiology Cincinnati Children’s Hospital, Ohio, USA

John Harley is a rheumatologist and biochemist with special clinical and research interests in the genetic etiology of inflammatory diseases. His experimental focus is the many genetic effects and environmental causes of systemic lupus erythematosus (SLE) and related inflammatory diseases. Through this work, nearly 50 genes are known and Epstein Barr virus has been identified to trigger the systemic autoimmunity of lupus. Dr. Harley also builds infrastructure with which to do high throughput genotyping, expression analysis, and epigenetics, which he makes available to his colleagues from around the world. In recent experiments, Dr. Harley organized the logistics of managing >18,000 subjects at >30,000 genetic markers, 3200 subjects at 1.2 million markers, and 10,000 subjects at 196,000 markers. Dr. Harley is committed to all of the steps between association detection through replication and toward identifying the possible functional genetic variants and to pursuing their biology.

Friday 10th August 3:00 pm - 5:00 pm
Ground Floor Function Room Flinders Centre for Innovation in Cancer
Light refreshments provided

For further information regarding this seminar contact

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Genomics Medicine Seminar: Advances in variant interpretations through data sharing efforts
1:00 PM13:00

Genomics Medicine Seminar: Advances in variant interpretations through data sharing efforts

Dr Steven Harrison

Clinical Molecular Genetics Fellow Harvard Medical School

1 - 2 pm, Wednesday 1 August 2018

SAHMRI Auditorium, ground floor, North Terrace

Genomic medicine is an emerging field, with genomic testing having only been available in Australia in a limited clinical context since 2015. Despite it's youth, this technology is already quietly revolutionising medicine by providing unprecedented insight into the molecular mechanisms of disease. This allows accurate and rapid diagnosis of complex disorders, informs clinical care and enables the discovery of new therapeutic targets. Although the benefits of genomic testing are already being realised in the clinic, interpreting the hundreds of unique DNA changes or 'variants' identified by a genomic test remains challenging and requires significant domain expertise. Even in this early era of genomic testing it is clear that global collaboration and data sharing are required to fully decode the genome and realise the full potential of this technology.

This seminar, presented by Dr Steven Harrison, will explore the current standards in variant interpretation and provide an insight into how the ClinVar and ClinGen resources are being used to advance the field.

Dr Steven Harrison is an expert in variant interpretation and data sharing. He is currently a Clinical Molecular Genetics Fellow at Harvard Medical School and the Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) and in July 2018 will start as the Associate Laboratory Director of the Clinical Research Sequencing Platform (CRSP) of the Broad Institute of Harvard and MIT. His work focuses on variant interpretation approaches and standardization at both a CLIA- certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines, and the Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team which aims to resolve variants with interpretation differences between clinical laboratories. Steven was the recipient of the 2018 Richard King Award for Best Publication by a Trainee in Genetics in Medicine. He completed his PhD in Genetics & Development in 2014 at the University of Texas Southwestern Medical Center.

Attendance is free, but please register on Eventbrite by clicking here. For inquiries please email: australian.genomics@mcri.edu.au

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KEEP CALM and CRISPR: how to join the genome editing revolution.
10:00 AM10:00

KEEP CALM and CRISPR: how to join the genome editing revolution.

Presented by:

Professor Paul Thomas, Head of Developmental Genetics and SAGE, SAHMRI

SAHMRI Auditorium

CRISPR genome editing technology enables target genetic modification of virtually any species with unprecedented efficiency.  For Biomedical research, CRISPR technology offers unparalled opportunities to develop accurate and sophisticated cell and animal disease models using virtually any species or cell type.  Importantly, CRISPR can also be used to modify the human genome in vivo, enabling functional correction of disease-causing mutations for precision medicine applications.


Prof Paul Thomas is Director of the SA Genome Editing (SAGE) facility and Genome Editing Laboratory (GEL) at SAHMRI.  He was an early adopter of CRISPR technology and his lab has generated over 60 mutant mouse lines using CRISPR editing.  Prof Thomas will provide an overview CRISPR editing and describe novel applications and unexpected outcomes of this relatively new technology.


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8:30 AM08:30

Cystic Fibrosis - Awareness and Training Session

This Cystic Fibrosis Education Day is for General Practitioners but others are welcome to attend.

The talks will cover preconception screening and reproductive options.  

Registration and parking is free at the RAH.

For more details on the program and to register, please use the following link using Chrome.



Start                      16 Jun 2018 at 8:30am AEST

End                        16 Jun 2018 at 2:00pm AEST

Location               Lecture Theatre, Level 7D291/292 RAH, Port Road, Adelaide, Australia

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8th Barossa Cell Signalling in Cancer Medicine
to Nov 17

8th Barossa Cell Signalling in Cancer Medicine

The Barossa Meetings have an established reputation for quality, bringing together some of the world’s best scientists across different disciplines in a convivial atmosphere conducive to open and energetic discussions. The 2017 meeting’s theme of ‘Cell Signalling in Cancer Medicine’ will continue this tradition by bringing into focus the major new paradigms arising from fundamental discoveries and their impact on therapeutic strategies. In addition to the numerous international delegates, the meeting will be attended by many of the key Australian researchers in cell signalling and cancer medicine.

Visit the meeting website for more information.

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10:00 AM10:00

Cancer Functional Genomics Workshop


Full day workshop at Adelaide Oval 10:00 am - 4:30 pm, followed by dinner at Restaurant Cliché Exhibition.

The organisers of the Cancer Functional Genomics workshop would like to invite researchers and clinicians to attend a free one-day workshop in Adelaide on Monday 13 November aimed at exploring current and emerging techniques for assessing the impact of genomic changes in cancer. The workshop is open to those who have an interest in understanding and collaborating in Australian cancer functional genomics initiatives.


The workshop will pose the question of how approaches such as saturation mutagenesis, PDX, iPS models, organoid culture, transcriptomics, high-throughput live cell imaging, pharmacogenomics, metabolomics and bioinformatic modelling, among others, can be used to more efficiently harness genomics to improve outcomes for cancer patients.


For those interested in the field (and/or South Australian wines!), note that this workshop directly precedes the 8th Barossa Cell Signalling in Cancer meeting, which is to be held on the 14th – 17th November 2017.


Click here for the full program and to register online.  

Registration deadline: November 1


Limited places are available, so book soon before they run out!

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 'Not born equal, when DNA is in charge' - Professor Jozef Gecz
5:45 PM17:45

'Not born equal, when DNA is in charge' - Professor Jozef Gecz

  • Elder Hall, The University of Adelaide (map)
  • Google Calendar ICS

Healthy Development Adelaide’s 13th Annual Oration will be presented by Professor Jozef Gécz, NHMRC Senior Principal Research Fellow and Chair for the Prevention of Childhood Disability, University of Adelaide and SAHMRI.

Prof. Gécz’s presentation is titled 'Not born equal, when DNA is in charge'.

In about 1 in 50 individuals worldwide, the healthy development of the central nervous system is affected by a genetic alteration.

These so-called neurodevelopmental disabilities (NDDs) are a group of primarily intellectual disabilities, epilepsies, autisms and cerebral palsies.

They are among the most clinically and genetically diverse disorders which pose a considerable challenge to medicine and our society.

In Prof. Gécz’s 30 years of research in this field, more than 1000 different NDD genes have been identified, yet answers have been found for less than 50% of the sufferers.

There is a considerable excess of affected males over affected females although the sex chromosome X contribution is only 10-15%. While finding the causes of NDDs has been rewarding, understanding the disease mechanisms and finding effective treatments remains the major challenge for Prof. Gécz.

RSVPs essential for catering by Thursday 14 September to anne.jurisevic@adelaide.edu.au

Date: Wednesday, 20 September 2017
Time: 5.45pm - 7.30pm (Doors open from 5.15pm)
Venue: Elder Hall, University of Adelaide, North Terrace
Free admission: food and drink following event.

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6:00 PM18:00

Survey: Genetics & Testing for Family History & Ancestry - Participants Wanted

  • The International Visualisation Centre (map)
  • Google Calendar ICS

Let's talk genetics and testing for family history and ancestry!


Research participants wanted

We are a team of researchers looking into Australians’ thoughts on topics such as genetic testing for family history and ancestry.

We are looking for members of the public to help with our research and WE NEED YOU to take part in an interactive forum!

You don’t need to know anything about DNA and genes. We are looking for people to join a discussion about this type of testing and new genetic technologies. This will help us inform policy and produce relevant information.

We welcome people who have and have not had testing in this area and also those who are not sure they would be interested in this type of testing.

Ideally we are wanting to hear from members of the public, so please share this with friends and family you think may be interested.

Where? The International Visualisation Centre, Adelaide South

When? Tuesday 12th September

For how long? 6pm – 9pm

You will receive a $50 gift voucher for your time.

Please visit: www.genioz.net.au to register your interest! One of our researchers will be in contact with more details.

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1:30 PM13:30

MS McLeod Research Seminar + Launch of the SA Genomics Health Alliance

Professor Kathryn North AM

Genomic Medicine is currently revolutionising healthcare across the globe. Led by the internationally recognised paediatric physician, neurologist, and clinical geneticist Professor Kathryn North AM, this afteroon of talks will explore what is being done to harness this technology on the local, national and international stage, separating real outcomes from the hype, and discussing how a collaborative 'whole of systems approach' is required to maximise patient outcomes.

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