Combined Meetings of Australasian Mutation Detection & Molecular Genetics Society of Australasia

Monday, 17 September 2012 to Friday, 21 September 2012 from 9:00 AM - 12:00 PM

Sabaya Resort Port Douglas (a.k.a. QT Port Douglas), Port Douglas, Australia


On behalf of the executive of the Molecular Genetics Society of Australasia, it is my pleasure to invite you to the 2012 Australasian Mutation Detection Workshop in the tropical resort of Port Douglas, Queensland. Even before the formal recognition of the MGSA as a special interest group of the HGSA in 2005, Dick Cotton’s Mutation Detection Workshop was regarded as the ‘home meeting’ for the small community of Australasian molecular diagnostic laboratories. Over the years this meeting has predicted several waves of technology change in our laboratories. Whether DHPLC, HRM, MLPA or microarray, you heard about these applications at ‘Mutation Detection’.

It is therefore particularly appropriate that this year, as many of our labs are embracing the diagnostic applications of next generation sequencing, that our society is combining with Dick and the team at GDRC to jointly host ‘our’ meeting for the first time.

Next generation sequencing, its clinical applications and the bioinformatic transformation that it heralds, are major themes of the workshop in 2012.
The MGSA is delighted with the range of local and international speakers that the organising committee have put together. For a small meeting, it is truly impressive. I therefore invite you to submit your abstracts as soon as possible, and encourage your hard working staff to travel to tropical north QLD in September for this special local meeting.

Dr Cliff Meldrum, MGSA Chair 

This meeting which now combines the Molecular Genetics Society of Australasia's annual meeting with the biennial Mutation Detection meeting has developed as the only place almost all diagnostic laboratory personnel can come together to discuss mutation detection, its successes and problems and, thanks to the inventors and often corporate sponsors, learn about new methods. The meeting will provide a good opportunity for you to share your experiences and ideas with your colleagues as it is a forum where developers of methodology can exchange ideas, and those responsible for diagnostics can compare results with specific methods. Those in agriculture, microbiology and non-medical fields are encouraged to attend.

Prof. Richard Cotton, Mutation Detection Chair


Satellite Meeting

The Human Variome Project Australian Node will hold a satellite meeting on Sunday 16th Sept.  Some of you will no doubt be interested in attending. A seperate registration is required to cover the costs of room hire and catering.   You can choose to either take out a single registration to this meeting or the HVP Australian Node meeting or if you wish to attend both meetings you can take out a joint registration package.  Further information below

Invited Speakers

Stephen Kingsmore 

National Center for Genome Resources, Santa Fe, & Children’s Mercy Hospital, Kansas City, USA.

"Implementing genomic medicine: Next generation sequencing of genomes, exomes and targeted panels in a children's hospital"

Marcel Nelen 

Radboud University Medical Centre, Nijmegen, Netherlands

"Exome sequencing in the clinic"

Julian Clarke

Walter and Eliza Hall Institute, Melbourne, VIC

"The challenge of commercialising molecular diagnostic tests"

Andrew Fellowes

Molecular Pathology Diagnostic Development, Peter MacCallum Cancer Centre, VIC

"Next Generation Sequencing (NGS) - based Diagnostic Services in the Clinical Cancer Setting"

Madhuri Hedge

Emory Univ, School of Medicine, Atlanta, GA, USA

"Implementation of next generation sequencing in a clinical laboratory: from gene panels to exomes"


Confirmed Company Lectures


  • Sean Grimmond
  • Optimizing Cohort and personalized Cancer Genome Sequencing for Pancreatic Adenocarcinoma


  • Darryl Irwin
  • MassArray - Proven Tools for Biomarker Validation and Translation

Abbott Molecular

  • Douglas A. Bost
  • Characterization of Fragile X (FMR1) Promoter Methylation Status Using a Laboratory Developed High Resolution Melt Assay Design

Complete Genomics

  • Rick Tearle
  • Long Fragment Reads (LFR) allow phasing and reduce error


  • Erwin Tantoso
  • Analysis approach in identifying somatic mutations from exome sequencing data using Partek(R) NGS collection

Millenium Science

  • Paul Lacaze
  • Targeted amplicon resequencing using Fluidigm’s AccessArray Microfluidics System


  • array analysis
  • next generation sequencing
  • mutation detection methods & applications
  • exome analysis
  • data collection
  • & more


Submission closed unless poster, email secretariat.


Sabaya Resort Port Douglas NOTE! This has recently been renamed/renovated/reborn as QT Port Douglas
Port Douglas Rd

Port Douglas

QLD, Australia


As usual, we have a wonderful programme arranged. Everything is included in your registration fee except dinner on Tuesday night (we thought you might like some free time to explore Port Douglas) and any extra drinks you might want to get.

Sunday 16th Sept. - satellite meeting

  • registration 8.30 am - 9.00 am
  • Human Variome Project Australian Node meeting 9.00 am - 5.00 pm
  • registration & poster mounting 4.00 pm - 5.00 pm

Monday 17th Sept.

  • registration 9.00 am - 10.30 am
  • meeting Start 10.30 am
  • welcome BBQ 7.00 pm

Tuesday 18th Sept.

  • full day meeting
  • free evening at your leisure

Wednesday 19th Sept.

  • half day meeting
  • excursion to Daintree Rainforest 
  • casual dinner 

Thursday 20th Sept.

  • full day meeting
  • Gala dinner 

Friday 21st Sept.

  • half day meeting until 12.00 PM (due to flight schedules from Cairns)


You may register by visiting the box on the top corner right of this Website.  Registration includes all breaks, lunches, Welcome BBQ, Casual dinner, Gala dinner an excursion and administative costs. (everything except dinner Tuesday night so no need to spend much money once you are there) Rates are inclusive of GST.  You may also wish to register for the HVP Australian Node meeting on the 16th, this includes coffee breaks and lunch. 

Note. You are asked to provide your mobile phone number during registration.  This is so we can do a mass SMS of any important information that may arise and only if it is necessary (e.g. weather disrupts airport), we will NEVER give your number to another party or use it for any other purpose.

Fees (including GST)

Regular Delegate

  • EARLYBIRD (until 31st July 2012) - $825
  • EARLYBIRD plus HVP Australian Node Meeting combo (until 31st July 2012) - $890
  • REGULAR (from 1st Aug. to 9th Sept. 2012) - Add $100 to Earlybird
  • LATE (from 10th Sept. 2012 onwards) - Add $200 to Earlybird

Student Delegate 

  • EARLYBIRD (until 31st July 2012) - $715
  • EARLYBIRD plus HVP Australian Node Meeting combo (until 31st July 2012) - $787
  • REGULAR  (until 31st July 2012) - add $100 to Earlybird
  • LATE (from 10th Sept. 2012 onwards) - Add $200 to Earlybird

Human Variome Project Australian Node Satellite Meeting ONLY

  • $90

This registration is for Sunday 16th Sept. ONLY and does not allow access to the main meeting.

Accompany Persons (adult) - NOT A DELEGATE

This ticket is for people who wish to bring a family member or friend  WHO IS NOT ATTENDING THE MEETING to the Social Events.  It is listed seperately so you can log in and make the booking without your workplace being involved in the payment.  You MUST use an email address that is different to the one used to register you the delegate.  See the Social Programme Page for details.



Please book and pay for your accommodation at the time of registration.   There are many different and affordable room types and apartments at the conference venue.

See the Accommodation page for more details about the hotel, room types and how to book.

Note,If you wanted to book a room type that your workplace will not pay for e.g. upgrade to an apartment when they will only pay for a garden view room, please contact the secretariat and we will make an arrangment to accommodate the difference in payment.  This is good for those people bringing families.


The Human Variome Project Australian Node Satellite Meeting - Sunday 16th Sept.

The Human Variome Project Australian Node ( is an electronic repository of genetic test results and interpretations collected from pathology laboratories conducting genetic testing around the country. It was launched in 2011 in order to provide a resource for Australian diagnostic labs, clinicians and genetic counsellors when interpreting test results and communicating those findings to patients.

The Australian Node is currently in contract negotiations with the NeCTAR project to expand its services. Work will soon begin to increase the number of the genes contained in the repository as well as the number of laboratories submitting data, and to begin linking this molecular data with existing and new clinical datasets.

This meeting will provide an opportunity for all interested people to learn more about the services currently provided by the Australian Node and participate in planning the next phase of services. The meeting will particularly focus on the collection of clinical data?what data should be collected, what data can be collected, how we can collect these data ethically?and will begin to define a generic clinical data model that can be simply adapted for each gene/disease.

If you wish to attend, please take out either a joint registration package to both meetings or a single registration for this meeting alone.


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Select Your Tickets


First Name:

Last Name:

(Inc. Tax)
Delegate Registration$925.00Allocation Exhausted
Delegate Registration + HVP Aust Node$990.00
Student Registration$815.00
Student Registration + HVP Aust. Node$887.00
HVP Aust. Node Satellite ONLY$90.00
Accompanying Guest (NOT a delegate) Adult$458.00
Accompyaning CHILD 4 - 12 yrs$165.00
Accompyaning CHILD 0 - 4 yrs$98.00