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

Genomics of Rare Disease

22 - 24 March 2021Wellcome Genome Campus, UK
Deadlines (at 23:59 UTC):
  • Abstract deadline 26 January 2021
  • Registration deadline 23 February 2021

Registration opens soon.
Email for updates.

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

  • Summary

    We are pleased to announce the 15th 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 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 how this is changing 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 be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions that interrogate non-coding variation in disease, explore new therapeutic approaches to rare diseases, and discuss the challenges and opportunities in implementing genomics in mainstream healthcare.

    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 22 March and close at approximately 14.00 on 24 March 2021.

    Topics will include:

    • What’s new in rare disease?
    • Functional genomics
    • Developmental genetics
    • Non-coding variants in disease
    • Informatics
    • Therapeutic approaches to rare disease
    • Informatics
    • Mainstreaming genomics in healthcare
  • 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

    Dian Donnai

    Dian Donnai
    Manchester Centre for Genomic Medicine, UK

    Confirmed speakers

    A list of confirmed speakers will be announced shortly


    Scientific Conferences Team

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


  • Registration/ Accommodation
    Early bird discount
    (until 5 Jan 2021)

    Standard rate
    (after 5 Jan 2021)
    Student No accommodation TBA TBA
    Student On-site twin accommodation TBA TBA
    Student On-site single accommodation TBA TBA
    Academic No accommodation TBA TBA
    Academic On-site twin accommodation TBA TBA
    Academic On-site single accommodation TBA TBA
    Commercial No accommodation TBA TBA
    Commercial On-site twin accommodation TBA TBA
    Commercial On-site single accommodation TBA TBA

    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 22 and 23 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.

    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: 26 Jan 2021

    How to upload an abstract once you have already completed registration:

    1. Log back into your registration account using either Firefox or Internet Explorer as your browser, via link above the ‘Share’ button on the right hand column of this page
    2. Click on ‘Account’ (top right).
    3. Then click on ‘View account history’. This will show a table of your event registrations.
    4. In the right-hand column you will see the option to ‘Upload file’ – click on this and select to upload an abstract.
  • 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: 12 Jan 2021

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

  • Sponsors