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12th International Symposium on Mutation in the Genome

Monday, 22 April 2013 to Friday, 26 April 2013 from 4:00 PM - 11:00 AM

The Fairmont Chateau Lake Louise, Lake Louise, Canada


12th International Symposium on Mutation in the Genome:

mutation detection & genome sequencing- detecting variants one-by-one or

genome wide

22nd - 26th April 2013

Lake Louise, Canada



We invite you to attend the 12th biennial meeting of this series that will be held at The Fairmont Chateau Lake Louise, in the UNESCO World-heritage Banff National Park.   Lake Louise has become symbolic of the quintessentially Canadian mountain scene. This alpine lake, known for its sparkling blue waters, is situated at the base of impressive glacier-clad peaks that have long been at the heart of Canadian mountaineering. At about 2.5 kilometres long and 90 metres deep, the lake offers a surreal paddling experience in the warm summer months and one of the most scenic skating rinks in the world in winter.

Scientific Programme Committee

  • Richard Cotton (Chair), Melbourne AUS
  • Nancy Carson (Local rep.), Ottawa CA
  • Kym Boycott, (Local rep.), Ottawa CA
  • Johan T. den Dunnen, Leiden NETH
  • Stephen F. Kingsmore, Kansas City, USA



22/03/13 Link to the latest programme here - There might be some small changes and/or rearrangements.

Download a meeting report from the previous meeting here > Mutation Detection 2011.


About the Meeting

The first meetings in this series concerned methodology which was developed to find mutations/variations in DNA. When we fast forward on 20 years we find cheaper and cheaper methods being used to do the same faster and faster. This has required different and new technologies to (a) analyze the output from the sequences (b) methods to assign pathogenicity to variants (c) databasing, (d) pre-conception testing and (e) personal genomes. The content of this meeting has moved in this direction.

We are all conscious of the disadvantages developing countries face in healthcare. In the area of genetic healthcare, sophisticated machines are beyond the reach of many, thus we are always wishing to showcase methodology that is affordable for all whether it be a new method or an old favourite with a new application.  

We are also always wishing to present the latest and best methodlogy for scanning and sequencing and new technologies will be presented as always. 

We therefore encourage you to come and learn something new and or present your findings at our meeting in Lake Louise,  a wonder of nature. We hope you take full advantage of the experts and companies we shall assemble. This wonderful environment coupled with good food and excellent science should provide an atmosphere of many new ideas and collaborations.

As always, this meeting limits the number of attendees to allow maximum interaction between delegates and we have prepared a wonderful social programme to complement the scientific programme that will ensure the best networking possible.


Invited Speakers 

Mark Akeson, Santa Cruz, USA

DNA analysis using Nanopores

Francois Bernier, Calgary, Canada

Genomic approaches for the diagnosis of rare diseases; experience from FORGE Canada

Kym Boycott, Ottawa, Canada

FORGE Canada: A nation-wide effort to identity novel genes for rare diseases

Thomas Caskey, TX, USA

Identifying adult disease risk by genome sequencing

Richard G.H. Cotton, Melbourne, Australia

The Human Variome Project

Johan T. den Dunnen, Leiden, The Netherlands

New seq. technologies and their application in medical research

Marc Greenblatt, VT, USA

Classification of variants

Stefan Harrer, Melbourne, Australia

DNA Nanopore Seq.

Steven Jones, Vancouver, Canada

Whole genome seq.

Stephen Kingsmore, Kansas City, USA

Experience with targeted panels, exomes and genomes for timely diagnosis of genetic diseases in a children's hospital

Jacek Majewski, Montreal, Canada

Exome and Whole-Exome Seq. for gene disovery

Yves Moreau, Leuven, Belgium

Microarray analysis of CNV in single cells; exome CNV 

Mats Nilsson, Stockholm, Sweden

In situ seq. for mutation detection directly in tumor tissue sections

Graham Taylor, Leeds, UK

Quality control of mutation detection by next generation seq.

Ciska Wijmenga, Groningen, The Netherlands

Genome of the Netherlands

Liz Worthey, Wisconsin, USA

Making a Definitive Diagnosis: Experiences from our WGS based Genomic Medicine Clinic

Sunney Xie, Cambridge, MA, USA

Single Cell Whole Genome Amplification and Sequencing: Direct Measurements of Human Mutation Rate



You are welcome to attend the meeting without submitting an abstract. Only those registering are able to submit abstracts.

Opportunites for both oral and poster presentations are available. If you are not assigned an oral presentation, you will most likely be assigned a poster presentation if your abstract is within the scope of the meeting. Please visit the Abstract page for more information on preffered topics and themes.

Please follow the instructions on the Abstract submission page. Abstracts for Posters may still be submitted  - closing date: UMT 12.00 AM - Wed 20th March 2013 (Calgary time 17.00 19th March)



The Fairmont Chateau Lake Louise

111 Lake Louise Drive

Lake Louise, AB, Canada


Monday 22nd April 2013

  • Registration 13.00 - 14.00
  • HVP/WHO Meeting 13.30 15.30 (Satellite all welcome)
  • Registration 15.00 - 16.00
  • Official MD2013 opens 16.00
  • Welcome Reception - Alpine Gallery 19.00

Tuesday 23rd April 2013

  • Meeting continues 8.30 
  • Dinner - Victoria Ballroom - 19.00

Wednesday 24th April 2013

  • Meeting continues 8.30
  • Canadian Icefields Excursion begins 11.00 am 
  • Dine around Dinner - dine in any of the hotel restaurants at your leisure using vouchers provided

Thursday 25th April 2013  

  • Meeting continues 8.30
  • Gala Dinner - Lake Louise Dance Barn  - 19.00 (dress up in Western clothing - i.e. denim jeans or skirt, shirt, boots...)

Friday 26th April 2013

  • Meeting continues 9.00
  • Meeting ends: 11.00


All costs in Canadian dollars CAN$.  The registration fee includes administrative costs, coffee breaks, lunches, Welcome reception and three dinners inlcuding drinks, and an excursion.  

You do not need to spend any money whilst you are at the meeting.


EARLYBIRD (until 19th March 2013) - $870

REGULAR (from 20th March 2013 to 7th April 2013) - $970

LATE (from 8th April 2013 onwards) - $1070

STUDENTS - $750.   There are limited student opportunities available, please send a letter on institute/university letterhead signed by your supervisor to the secretariat and you will be advised how to apply for this rate.  

LOW & MIDDLE INCOME COUNTRIES - $750 (as determined by the world bank) (available until 28th February 2013 only)

There are very limited opportunites available. If you qualify as a low-middle income country delegate, please send your application to the secretariat. 


NOTE!  The Website will AUTOMATICALLY SWITCH to the new rates when the date changes to the new rate so register early to get the Earlybird benefit!


Accompanying Persons Package  

Registration for guests of delegates to attend the conference social events.  This does not include the conference, coffee breaks or lunches and is only for people who are accompanying a conference delegate, e.g. a family member. Please see the Social Programme page for details.

This package allows your spouse, partner, family member, friend etc. to accompany you at  the following events:

  • The Welcome Reception 
  • Victoria Room Dinner
  • Dine around Dinner
  • Gala Dinner
  • Excursion

only if tickets have been pre-purchased. You can do this at the time of registration or by contacting the secretariat prior to the conference. 



We have secured ample accommodation at excellent rates at the conference venue, The Fairmont Chateau Lake Louise. Accommodation details may be found on the "Accommodation" page of this website.

For Students and those who qualify from low and middle income nations, there are also very limited opportunities for a "residents rate" for accommodation kindly provided to us by the hotel The Fairmont Chateau Lake Louise. Only if you have need, please advise why you would need this in your application to the secretariat as these rooms cannot be booked online and must be booked seperately.

Traveling to Lake Louise

Calgary international airport is the closest airport to Lake Louise and has direct flights from Asia, Europe and the United States so is easily accessible. Please visit the Travel & Visas page for information about airport to Lake Louise shuttle.

Internet Access

We will not provide any internet access however wifi access is available for free to any guest of the hotel who joins the Fairmont President's club  so we encourage you to do this (its free) before you arrive at the hotel.  


Yes, you can still ski until early May - and this year has been a bumper year! See LLSki website, and also Big3 site . Ski shop inside hotel.


Includes all lunches & dinners


First Name:

Last Name:

Delegate RegistrationCA$870.00
Accompanying Guest Adult/child 16-18CA$564.00
Accompanying Guest Child 13 - 15 yrsCA$348.00
Accompanying Guest Child 6 - 12 yrsCA$186.00
Accompanying Guest Child 4 - 5 yrsCA$40.00
Accompanying Guest Child 0 - 3 yrsFree