Genomics of Rare Disease: Beyond the Exome

13–15 April 2016

Wellcome Genome Campus, Hinxton, UK


We are pleased to announce the tenth in our series of meetings on rare diseases. Genomics of Rare Disease: Beyond the Exome will present an exciting blend of genomic science and clinical medicine. This conference provides an excellent forum for clinicians and scientists interested in human genomic variation and the mechanisms by which it exerts its phenotypic effects.

The meeting features the latest findings related to the genomic basis of
rare diseases, which can provide powerful insights into human biology. As
we move beyond exome sequencing to whole genome sequencing, the
opportunities and challenges that arise for human genome analysis and
clinical practice will also be explored.

This year’s meeting will focus on the links between monogenic and
polygenic disorders and will explore the various modifiers of rare
disease. We will discuss new technologies, including metabolomic
approaches. We plan an extended session on new approaches to therapy and
will also debate current ethical issues in genomic medicine.


The conference will start at approximately 12.30 on Wednesday, 13
April and close at approximately 16.00 on Friday, 15 April 2016.

Scientific sessions

  • Monogenic meets polygenic disease
  • Modifiers of rare disease
  • Omics at scale
  • Mechanisms of rare disease
  • New technology
  • Matchmaking exomes: the lonely variant
  • New approaches to therapy
  • Ethical and policy issues in genomic medicine

Organisers and speakers

Scientific programme committee
Han Brunner
Radboud University Medical Centre, The
Kym Boycott
University of Ottawa, Canada
Helen Firth
University of Cambridge, UK
Matthew Hurles
Wellcome Trust Sanger Institute, UK
Jay Shendure
University of Washington, USA

Lupski Lecture
Hal Dietz Johns Hopkins University School of Medicine,

Confirmed speakers
Susan Ackerman University of California, San Diego,
Jeffrey Barrett Wellcome Trust Sanger Institute, UK
Jessica Chong University of Washington, USA
Ada Hamosh Johns Hopkins University School of Medicine,
Steve Jackson University of Cambridge, UK
Stanislas Lyonnet INSERM, France
Alex MacKenzie CHEO Research Institute, Canada
Jennifer Robinson University of Iowa, USA
Andrew Sharp Icahn School of Medicine at Mount Sinai,
Deborah Thompson University of Cambridge, UK
Barbara Treutlein, Max Planck Institute, Germany
Joris Vermeesch K.U. Leuven, Belgium
Dagan Wells University of Oxford, UK
Ron Wevers Radboud University Medical Centre, The
James Wilson University of Pennsylvania, USA

Conference organiser
Jemma Beard Wellcome Genome Campus, UK

How to apply

Registration Fees:

Student No accommodation £289.00
Student On site twin accommodation £372.00
Student On site single accommodation £455.00
Academic No accommodation £389.00
Academic On site twin accommodation £472.00
Academic On site single accommodation £555.00
Commercial No accommodation £489.00
Commercial On site twin accommodation £572.00
Commercial On site single accommodation £655.00


The registration fee includes entrance to the lectures and poster
sessions, an abstract book, meals (lunch and dinner) and refreshments
during the conference. Breakfast will be provided for delegates who have
booked accommodation.

Registration deadline: Closed

Accommodation is provided for the nights of 13 and 14 April 2016. Please
note: there is limited onsite accommodation and this will be allocated on
a first-come, first-served basis. Therefore, early registration is

If you wish to book onsite accommodation either side of the conference
dates, please contact the Conference Centre directly.

Travel visas
Contact the conference organiser if you require a letter to support a
travel visa application. Please Note: letters will only be provided to
confirmed registrants.

Non-European Economic Area or Swiss nationals may be required to have a
visa to enter the UK.
Early application is strongly advised, as this process can take 6-8 weeks
or longer.

Please visit the following websites for further information:
UK Border Agency website:

Information for general visitors and business visitors:


A limited number of registration bursaries are available for PhD students
to attend this conference (up to 50% of the registration fee) from
Wellcome Genome Campus Scientific Conferences.

The following documents will need to be provided:

  • Abstract
  • CV
  • Covering letter
  • Letter from supervisor

To apply, please contact the conference organiser.

Bursary deadline: Closed


We welcome abstracts from all areas relevant to the main themes of the
meeting, for both oral and poster presentations. Several oral
presentations will be chosen from the abstracts submitted.

Please register prior to submitting your abstract. Please note: abstracts will only be considered from registered delegates.

The scientific programme committee will assess your abstract after the
deadline has passed and you will be notified whether you have been
selected for an oral or poster presentation.

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

Abstract deadline: Closed

Abstract guidelines

  • Format & Font: Prepare your abstract in Microsoft Word in 11-point Ariel Font.
  • Title: The title should be concise and be in bold, sentence case.
  • Author names: The presenting author’s name must be the first name to appear on the list of authors. Underline the name of the presenting author. For each author give the forename followed by the surname.
  • Affiliations: Please list the authors and affiliations directly under the title, separated by one empty line, and followed on additional lines as necessary. Indicate each author’s affiliation with a superscript numeral following the surname.
  • Abstract length: should not exceed one 1.5-spaced page. The total word limit is 400 words (to include title, authors, affiliations and abstract narrative).
  • Abstract narrative: must be clear and concise. Clearly describe the problem you are addressing, the results to date and any conclusions you can draw from them, so that your abstract can be evaluated by the programme committee. Avoid saying in effect ‘a solution to XYZ problem will be presented’. Please ensure that your abstract is checked for correctness of spelling and grammar in advance of submission.
  • Subheadings: Please avoid the use of subheadings in the abstract narrative.
  • References: A separate list of references at the end of the abstract is not necessary.
  • File name: should be the same as the surname of the presenting author.
  • Download a sample abstract document (Microsoft Word), which can be used for formatting purposes.
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