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  Genomic Disorders 2014: The Genomics of Rare Diseases

5-7 March 2014

University Arms Hotel, Cambridge, UK

Abstract Deadline: Closed | Registration Deadline: Closed

The 8th Wellcome Trust Genomic Disorders conference will present an exciting blend of genomic science and clinical medicine. This meeting will bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects.

Genomic Disorders 2014 will discuss the latest findings on the genomic basis of rare disorders as these can provide such powerful insights into human biology. Genome-wide analyses, including array Comparative Genomic Hybridization (aCGH) and Whole Exome Sequencing (WES), have been invaluable in discovering the genetic basis of rare disorders and illustrate the heuristic power of humans as a pioneering organism rather than just another model organism. The meeting will focus on how human genome analysis can best assist future clinical practice and patient care. A particular emphasis of this year’s meeting will be on genomics in reproductive medicine, modelling rare disorders in animal models and cells, and interpreting genomic variants in rare diseases.

Scientific programme committee
Han Brunner Radboud University Nijmegen Medical Centre, The Netherlands
Helen Firth University of Cambridge, UK
Matthew Hurles Wellcome Trust Sanger Institute, UK
Jim Lupski Baylor College of Medicine, USA

Confirmed speakers
Fowzan S. Alkuraya King Faisal Specialist Hospital and Research Center, Saudi Arabia
Barbara Biesecker NHGRI, USA
Kym Boycott University of Ottawa, Canada
Fang Chen BGI, China
David FitzPatrick University of Edinburgh, UK
Barbara Franke Radboud University Nijmegen Medical Centre, The Netherlands
Ira Hall University of Virginia, USA
Christa Martin Genomic Medicine Institute, Geisinger Health System, USA
Rebecca McIntyre Wellcome Trust Sanger Institute, UK
Sharon Terry Genetic Alliance, USA
David van Heel Queen Mary University of London, UK
Joris Vermeesch K.U.Leuven, Belgium
Bernd Wollnik CECAD, Germany

Scientific sessions will include:

Natural variation and mutational processes
Developmental and regulatory genetics
Genomics in reproductive medicine
Ethical and policy issues in genomic medicine
Animal and cellular models of rare disorders
Interpretation of genomic variants
Translational medicine

The conference will open with registration from 13:00 on the 5 March with presentations starting at 15:00. The conference will close at approx. 17.00 on 7 March.
To view a copy of the programme, please click here

Please note that owing to building works to expand the Wellcome Trust Conference Centre at Hinxton, Genomic Disorders 2014 will take place at University Arms Hotel, Cambridge.


Registration and Accommodation

Registration Fees:


No accommodation



On Site Single accommodation



No accommodation



On Site Single accommodation



No accommodation



On Site Single accommodation


Registration and Accommodation:
The accommodation packages include registration, meals and housing for the nights of the 5 & 6 March 2014.
The no accommodation package includes registration and meals only (breakfast is not included).
If additional nights’ accommodation are required, please contact the University Arms Hotel directly on or call + 44 (0)871 222 4689

Please Note: Accommdation on site is no longer available. Please email to join the wait list. You will be contacted if a room becomes available.
Alternative accommodation in Cambridge can be found here.

Registration Deadline: Closed

Abstracts and Posters

Abstracts and Posters
Abstracts from all areas of genomic medicine are encouraged. The majority of the programme will be drawn from submitted abstracts. 
The abstract deadline has been extended until 31 January. The scientific committee will asses abstracts and you will be notified whether you have been selected for a short talk or poster presentation.
Abstracts will not be accepted if the presenting author is not registered.

Poster Presentations
Poster boards onsite will accommodate 118 cm high by 84 cm wide (A0- portrait) of printed material.
Accepted abstracts will appear in the conference programme book and poster boards will be allocated at the conference.

Bursary Application
The bursary application has now closed.

Travel Visas
If you require a letter of acceptance in order to obtain a travel visa please e-mail

Conference organiser contact details
Jemma Beard
Direct dial: +44 (0) 1223 495120
Fax: +44 (0) 1223 495023


We would like to acknowledge the generous support from the following organisations (for information on sponsoring this conference, please contact us



 Gibbs Building, 215 Euston Road, London NW1 2BE, UK   tel:+44 (0)20 7611 8888