Genomics of Rare Disease

Our 17th conference on rare diseases will discuss the latest findings in genetic mechanisms of disease and will highlight advances in therapeutic approaches.

This meeting provides an excellent multi-disciplinary forum for clinicians, research and clinical scientists, and bioinformaticians interested in recent advances in genomics and understanding the impact on the care of patients with rare diseases.

This year’s conference will focus on the genomic basis of rare diseases, and will explore new technologies and ‘omics’ approaches in rare disease research. Strategies for translating advances into clinical care and opportunities to implement genomic medicine into healthcare systems will be discussed. Potential approaches to preventing rare disease, and whether prevention should be the goal, will also be explored.

The programme will include invited talks, oral presentations selected from abstracts, posters, poster pitches, and networking opportunities for a highly interactive meeting. This conference will be a hybrid meeting – with onsite or virtual attendance.

Discover more about what makes this conference so valuable for the community, in this blog article.

The conference will start at approximately 13:00 BST on Monday 24 April 2023 and close at approximately 14:30 on Wednesday 26 April 2023.

Discussions will focus on various aspects of rare disease, with seasonal themes concentrating on:

• Gene regulation in rare disease
• Genomics and multi-omics
• Translational genomics
• New technologies
• Clinical applications
• Public health, prevention and policy

Scientific programme committee

Fowzan Alkuraya
King Faisal Specialist Hospital and Research Center, Saudi Arabia

Anna Lindstrand
Karolinska Institutet, Sweden

Jennifer Posey
Baylor College of Medicine, USA

James Ware
Imperial College London, UK

Keynote Speakers

Cynthia Morton
Brigham and Women’s Hospital | Harvard Medical School, USA | University of Manchester, UK

David Liu (virtual)
Harvard University, USA

Confirmed speakers

Malgorzata Borowiak – Adam Mickiewicz University, Poland
Claudia Gonzaga-Jauregui – Universidad Nacional Autónoma de México, Mexico
Jay Gopalakrishnan – Heinrich-Heine-University, Düsseldorf Germany
Lidewij Henneman – Amsterdam UMC | Vrije Universiteit Amsterdam, Netherlands
Nigel Laing – University of Western Australia, Australia
Tuuli Lappalainen  – KTH Royal Institute of Technology, Sweden
Dana Marafi –  Kuwait University, Kuwait
Danny Miller – University of Washington. USA
Alexandre Reymond – University of Lausanne, Switzerland‬
Peter Robinson – The Jackson Laboratory, USA
Kaitlin Samocha – Massachusetts General Hospital, USA
Robert Taylor – Newcastle University, UK

Organisers - Wellcome Connecting Science

Zoey Willard – Event organiser
Jane Murphy – Scientific programme officer

Registration deadline: 28 March 2023 (in person) | 17 April 2023 (virtual)

Deadlines close at 23:59 BST.

The in-person registration fee includes:

• Full access to scientific programme: oral and poster presentations, and networking on campus
• Access to the online conference portal to network with online participants
• Meals (lunch and dinner) and refreshments during the conference. Breakfast will be provided for delegates who have booked onsite accommodation.
• Recordings of the live-stream sessions, which will be available ‘on-demand’ for four weeks after the event ends

Virtual registration fee includes:

• Access to the virtual event portal (Log in details will be emailed a few days before the event starts)
• Live-stream sessions, including posters and online networking channels
• Recordings of the live-stream sessions, available ‘on-demand’ for four weeks after the event ends.

* To promote more inclusive scientific discussions with international colleagues at our conferences, delegates based in Lower and Middle-Income Countries can register for free (see list of countries here).

If you are an editor or journalist, please contact the conference organiser for more information about the discounted fee.

Payments: Please note that payment can only be made with Mastercard or Visa credit cards.

Accommodation

Booked accommodation is for the nights of 24 and 25 April 2023.
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 campus accommodation either side of the conference dates, please contact the Hinxton Hall Conference Centre directly.

Accommodation services phishing scam – please be vigilant. More information.

Travel visas

Citizens of many countries can travel to the UK for a course without needing a visa.
Please check the UK government website for visitor information
https://www.gov.uk/standard-visitor. 

Confirmed attendees requiring a letter to support a visa application should contact the conference organiser.

Financial assistance / Bursary deadline: 28 February 2023 at 23:59 GMT

A limited number of registration bursaries are available to attend this conference in person (up to 50% of the registration fee). Priority will be given to PhD students submitting abstracts who are facing financial barriers.

To apply, use the dedicated bursary application link on the registration site.
Please answer the bursary-related questions and submit an abstract before midnight UK time on the bursary deadline for your application to be considered.

Additional funding opportunities
Visit our support page for information on financial support, including carer grants to help delegates with the costs of caring for children or dependent family members while attending a course or a conference.

Abstract deadline: 28 February 2023 at 23:59 GMT

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. You can make changes to your submitted abstract before the deadline by login into your account  and following the instructions.

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.

All those accepted for a poster presentation will be given the opportunity to upload a short video describing their work

Uploading abstracts after completed registration:

1. Login to your account via ‘My Account’.
2. Click on ‘View account history’ to show a table of your event registrations.
3. Select the appropriate conference
4. Click on ‘Upload file’ (in right hand column).
5. Select ‘Abstract’ and upload via the abstract form.
6. If you wish to upload a second abstract, click on ‘Additional Abstract’ and again upload via the abstract form.

Please note: documents submitted via ‘Supporting Documents’ are for bursary applications only and cannot be seen during the abstract selection process.

With thanks to our sponsors:

If you are interested in supporting this meeting, please contact the sponsorship manager.

See our sponsorship page for information about the benefits.

Delegate feedback from the most recent virtual and in-person ‘Genomics of Rare Disease’ conferences

“GRD 2022 succeeded in bringing together a group of experts in genomics of rare diseases, the scientific level of the talks was very high, it was stimulating to listen to all of them!”

“I was positively surprised by the level and diversity of the presentations, topics, and speakers”.

“This was probably one of the best meetings I’ve ever been to! The session themes were right on point. The talks were almost universally great. Despite my jet lag, I actually paid attention to pretty much every single talk (that never happens)”.

“The number of delegates was relatively small, which makes it easier to interact with other people. The content was very focused. Many talks presented findings at the frontier of research. Some of them with as yet unpublished data. All of this made for a very good conference”.