Image of representation of DNA double helix

Genomics of Rare Disease

26 - 28 March 2018Wellcome Genome Campus, Hinxton, UK
Deadlines (at 23:59 UTC):
  • Early bird deadline Closed
  • Bursary deadline Closed
  • Abstract deadline Closed
  • Registration deadline Closed

Explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

  • Summary

    We are pleased to announce the twelfth in our series of meetings on rare diseases, which will present an exciting blend of genomic science and clinical medicine. This meeting will 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 programme will focus on the lessons learned from large-scale whole genome sequencing studies and discuss the new multiomic and single cell technologies that are having an impact on our understanding of rare diseases. There will also be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions on the legal and ethical issues around sharing patient data and explore the new therapeutic approaches to rare diseases.

    This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research and clinical 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.

    Further information will be available shortly. Please contact the conference organiser to register your interest in this meeting.

  • Programme

    The conference will start at approximately 12:30 on Monday 26 March and close at approximately 16:00 on Wednesday 28 March 2018.

    Topic will include:

    • What’s new in rare disease?
    • Lessons from large-scale whole genome studies
    • Data sharing – legal and ethical issues
    • Multiomic and single cell technologies
    • Informatic tools
    • Model organisms and systems
    • Developmental genetics
    • New therapeutic approaches to rare disease

    A draft programme will be available shortly.

  • Organisers/ Speakers

    Scientific programme committee

    Han Brunner

    Han Brunner
    Radboud University Medical Centre Nijmegen, The Netherlands

    Kym Boycott

    Kym Boycott
    University of Ottawa, Canada

    Helen Firth

    Helen Firth
    University of Cambridge, UK

    Matthew Hurles

    Matthew Hurles
    Wellcome Trust Sanger Institute, UK

    Kaitlin Samocha

    Kaitlin Samocha
    Wellcome Trust Sanger Institute, UK

    Jay Shendure

    Jay Shendure
    University of Washington, USA

    Lupski Lecture

    Kári Stefánsson

    Kári Stefánsson
    deCODE Genetics, Iceland

    Confirmed speakers

    Ido Amit – Weizmann Institute, Israel
    Alain Chedotal – Institut de la Vision, France
    Valérie Cormier-Daire – Université Paris Descartes, France
    Sally Dunwoodie – Victor Chang Cardiac Research Institute, Australia
    Casey Gifford – University of California, San Francisco, USA
    Bartha Maria Knoppers – McGill University, Canada
    Kathy Liddell – University of Cambridge, UK
    Jonathan Montgomery – University College London, UK
    Francesco Muntoni – Great Ormond Street Hopsital/Institute of Child Health, UK
    Alicia Oshlack – Murdoch Children’s Research Institute, Australia
    Ravi Savarirayan – The Royal Children’s Hospital, Australia
    Richard Scott – Genomics England, UK
    Axel Visel – Lawrence Berkeley National Laboratory, USA

    Conference organiser: Zoey Willard – Wellcome Genome Campus, UK

  • Registration/ Accommodation
    Early bird discount
    (until 4 Jan 2018)

    Standard rate
    (after 4 Jan 2018)
    Student No accommodation £288 £388
    Student On-site twin accommodation £392 £492
    Student On-site single accommodation £458 £558
    Academic No accommodation £388 £488
    Academic On-site twin accommodation £492 £592
    Academic On-site single accommodation £558 £658
    Commercial No accommodation £488 £588
    Commercial On-site twin accommodation £592 £692
    Commercial On-site single accommodation £658 £758

    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.

    Accommodation is provided for the nights of 26 and 27 March 2018. Please note: there is limited onsite accommodation and this will be allocated on a first-come, first-served basis. Therefore, early registration is recommended.

    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:

  • 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: 30 January 2018

  • 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: 16 January 2018

  • Sponsors