Genomics of Rare Disease - Image of representation of DNA double helix

Genomics of Rare Disease (virtual meeting)

25 - 27 March 2020Wellcome Genome Campus, UK
Deadlines (at 23:59 UTC):
  • Early bird deadline Closed
  • Bursary deadline Closed
  • Abstract deadline Closed
  • Registration deadline Closed

Exploring how genomic research translates into clinical care and informs our understanding of the biology of rare disease

  • Summary

    Due to the evolving situation with COVID-19, this conference will take place as a virtual meeting – details will be sent to all attendees.

    We are pleased to announce the 14th in our series of meetings on rare disease, which will present an exciting blend of genomic science and clinical medicine. This conference will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

    The programme 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 large-scale whole genome sequencing studies that 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 exploring regulatory regions beyond the coding regions of the genome, 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.

  • Programme

    The conference will start at approximately 12.30 on Wednesday, 25 March and close at approximately 14.00 on Friday 27 March 2020.

    Topics will include:

    • What’s new in rare disease?
    • Informatics
    • Developmental genetics
    • Functional genomics
    • Beyond the coding genome
    • New therapeutic approaches
  • Organisers/ Speakers

    Scientific programme committee

    Jennifer Posey

    Jennifer Posey
    Baylor College of Medicine, USA

    Kaitlin Samocha

    Kaitlin Samocha
    Wellcome Sanger Institute, UK

    Lisenka Vissers

    Lisenka Vissers
    University Medical Centre Nijmegen, The Netherlands

    James Ware

    James Ware
    Imperial College London, UK

    Keynote speaker

    Mark Daly

    Mark Daly
    Institute for Molecular Medicine, Finland

    Confirmed speakers

    Connie Bezzina –  University of Amsterdam, The Netherlands
    Guillaume Canaud – Necker Enfants Paris, France
    Rob Collin – Radboudumc University Medical Center, The Netherlands
    Tamar Harel – Hadassah-Hebrew University Medical Center, Israel
    Sebastian Kury – University of Nantes, France
    Anna Lindstrand – Karolinska Institutet, Sweden
    Anne O’Donnell-Luria – The Broad Institute, USA
    Cecilia Poli Harlowe – Universidad del Desarrollo, Chile
    Damian Smedley – Genomics England,  UK
    Lea Starita – University of Washington, USA
    Clare Turnbull – Genomics England/The Institute of Cancer Research, UK
    Nan Wu – Peking Union Medical College, China


    Scientific Conferences Team

    Treasa Creavin, Scientific Programme Manager
    Zoey Willard, Conference & Events Organiser


  • Registration/ Accommodation
    Early bird discount
    (until 7 January)

    Standard rate
    (after 7 January)
    Student No accommodation £292 £392
    Student On-site twin accommodation £399 £499
    Student On-site single accommodation £465 £565
    Academic No accommodation £392 £492
    Academic On-site twin accommodation £499 £599
    Academic On-site single accommodation £565 £665
    Commercial No accommodation £492 £592
    Commercial On-site twin accommodation £599 £699
    Commercial On-site single accommodation £665 £765

    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 on-site accommodation.

    Accommodation is provided for the nights of 25 and 26 March 2020. Please note: there is limited onsite accommodation and this will be allocated on a first-come, first-served basis. Therefore, early registration is recommended.

    Please note that if onsite accommodation has sold out, we suggest the following offsite accommodation:

    There is a shuttle bus to the campus from the Whittlesford Parkway train station – view the timetable.

    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:

    Accommodation services phishing scam – please be vigilant. More 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: 28 January 2020

  • Bursaries

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

    To apply, please contact the conference organiser. You will be sent a unique registration link which will hold your place, without taking payment, until you have been notified of the outcome of your application.

    The following documents will need to be provided as part of the bursary application:

    • Abstract (to be submitted via the portal during the registration process)
    • CV
    • A justification letter (explain how you will benefit from attending the conference)
    • A supporting letter from supervisor stating financial need

    If you have already registered for the conference you are still welcome to apply for a bursary, please contact the conference organiser.

    Bursary deadline: 14 January 2020.

    Additional funding opportunities
    Visit our support page for additional financial support currently available.

  • Sponsors

    Our Genomics of Rare Diseases conference has been made possible thanks to our valued sponsors.

    With thanks to our Bronze sponsor:

    Bronze Sponsor – Congenica


    DNA Genotek – Bronze Sponsor


    IMPC – Bronze Sponsor


    Novogene – Bronze Sponsor


    Pharmacogenetics & Statified Medicine Network – Bronze Sponsor


    A short talk prize has kindly been sponsored by:

    Short Talk Sponsor – Genome Medicine

    If you are interested in supporting this meeting, please contact the conference organiser.

  • Keynote lecture video from 2019 meeting

    Professor Nancy Cox – Exploring the ‘between’ spaces: the continuum from Mendelian to common disease, and the continuum from polygenic to multifactorial disease’