Genomics of Rare Disease

26–28 March 2018

Wellcome Genome Campus, Hinxton, UK

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


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.


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 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

Kaitlin Samocha
Wellcome Trust Sanger Institute, UK

Jay Shendure
University of Washington, USA

Lupski Lecture

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

How to apply

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:


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


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

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