Genomics of Rare Disease

05 - 07 April 2017Wellcome Genome Campus, Hinxton, UK
Deadlines (at 23:59 UTC):
  • Bursary Deadline Closed
  • Abstract Deadline Closed
  • Registration Deadline Closed

  • Summary

    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.

  • Programme

    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 / 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

  • Registration / Accommodation

    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:

  • Abstracts

    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

  • Bursaries

    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

  • Sponsors

    The organisers would like to thank the following company for their