Genomics of Rare Disease

5–7 April 2017

Wellcome Genome Campus, Hinxton, UK



We are pleased to announce the eleventh in our series of meetings on rare
diseases, which will present an exciting blend of genomic science and
clinical medicine. This year’s theme is ‘Discovery and Care’; we aim to
explore how cutting-edge genomic research translates into clinical care
and informs our understanding of the biology of rare disease.

The conference features the latest findings related to the genomic basis
of rare diseases, providing powerful insights into human biology, disease
mechanisms and therapeutic approaches. As genomic sequencing becomes more
available in the hospital setting we also examine the opportunities and
challenges for clinical practice.

This year’s meeting will focus on the emerging role of non-coding
variants in disease, how mosaicism and imprinting impact health and
disease, and the emerging technologies used to understand the mechanisms
of rare disease. We will also include a session on rare disease clinical
trials and will debate current ethical issues in genomic medicine.

This conference provides an excellent multi-disciplinary forum for
clinicians (consultants and trainees), research scientists,
bioinformaticians and technology developers interested in understanding
the impact of recent advances in genomics and technology on the care of
patients with rare diseases.


The conference will start at approximately 12.30 on Wednesday, 5 April
and close at approximately 16.00 on Friday, 7 April 2017.

Topics will include:

  • The emerging role of non-coding variants in disease
  • Mosaicism and imprinting in disease and health
  • New technologies to understand rare disease mechanisms
  • The intersection of monogenic and polygenic disease
  • Rare disease clinical trialling
  • Ethical challenges in genomic medicine
  • Developmental genetics
  • Cellular and animal modelling of disease

A draft programme is available.

Organisers and speakers

Scientific programme committee
Han Brunner Radboud University Medical Centre Nijmegen,
The Netherlands
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
Hans Clevers University of Utrecht, The Netherlands

Confirmed speakers
Han Brunner
Radboud University Medical Centre Nijmegen, The
Mark Chaisson University of Washington, USA
Rossa Chiu The Chinese University of Hong Kong, Hong
Beryl Cummings Broad Institute, USA
Emma Farley University of California, San Diego, USA
Matthew Hurles Wellcome Trust Sanger Institute, UK
Kim Keppler-Noreuil National Institutes of Health,
Veronica Kinsler UCL Institute Child Health, UK
Benjamin Neale Massachusetts General Hospital Research
Institute, USA
Jay Shendure University of Washington, USA
Sarah Teichmann Wellcome Trust Sanger Institute, UK
Karen Temple University of Southampton, UK

Conference organiser
Jemma Beard Wellcome Genome Campus, UK

How to apply

Registration Fees:

Student No accommodation £317
Student On site twin accommodation £419
Student On site single accommodation £481
Academic No accommodation £417
Academic On site twin accommodation £519
Academic On site single accommodation £581
Commercial No accommodation £517
Commercial On site twin accommodation £619
Commercial On site single accommodation £681


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 5 and 6 of April 2017. 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.

Abstracts will only be considered from registered delegates. Please use our online abstract submission system and follow the instructions given to ensure your abstract is submitted correctly. All abstracts must be submitted by the deadline. If you are intending to submit more than one abstract, please contact the conference organiser prior to registration.

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 conference.

Abstract deadline: Closed

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