Genomics of Rare Disease

This conference will run again 9-11 April 2025, visit the Genomics of Rare Disease 2025 webpage.

Our 18th conference on rare disease will combine recent research on genetic mechanisms involved in disease, with advances in approaches for clinical care.

This year’s conference will include discussion on the use of a ‘pangenome’ to improve diagnostic yield, the role of common variants in rare disease, and new developments in prenatal and neonatal genomic screening. Advances in therapeutics will be discussed, as will common disease studies with implications for rare disease research .

The programme will include podium presentations selected from abstracts submitted on the broad themes of the conference. Posters and poster-pitch talks will provide opportunities to present research findings or get feedback on ongoing projects.

This highly-interactive meeting fosters knowledge exchange among clinicians, clinical scientists, researchers and bioinformaticians working on rare diseases. There will be plenty of opportunities to establish collaborations through face-to-face networking with inclusive meals, and optional on-site accommodation.

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

This conference will be a hybrid meeting – with onsite or virtual attendance.

The conference will run from 13:00 on Monday 25 March 2024 until 14:30 on Wednesday 27 March.

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

• What’s new in rare disease?
• Pangenome
• Genomic screening
• Blurring boundaries between common and rare disease
• Therapeutics
• Beyond the genome.

Scientific programme committee

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

Anna Lindstrand
Karolinska Institutet, Sweden

Hilary Martin
Wellcome Sanger Institute, UK

Jennifer Posey
Baylor College of Medicine, USA

Keynote Speaker - Lupski lecture

Timothy Yu
Harvard Medical School, USA

Confirmed speakers to date

Valerie Arboleda
UCLA, USA

Diana Baralle
University of Southampton UK

Keren Carss AZ UK 
AstraZeneca, UK 

Ting Chen 
Xinhua Hospital, Shanghai Jiaotong University School of Medicine, China

Evan Eichler
University of Washington, USA

Khalid Fakhro
Sidra Medicine | Weill Cornell Qatar

Johnny Mahlangu 
University of the Witwatersrand, South Africa

Hugh Markus
University of Cambridge, UK

Shahida Moosa
Stellenbosch University, South Africa

Raheleh Rahbari
Wellcome Sanger Institute, UK

Lisenka Vissers
Radboud University, Netherlands

Joris Vermeesch
KU Leuven, Belgium

Organisers - Wellcome Connecting Science

Laura Wyatt – Event Manager
Jane Murphy – Programme Developer

Registration deadline: Tuesday 27 February 2024 (in person) | Monday 18 March 2024 (virtual only)

Deadlines close at 23.59 GMT.

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 virtual attendance (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 25 and 26 March 2024.
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: Tuesday 16 January 2024 at 23.59 GMT

Registration bursaries (usually 50% of the registration fee) are available to attend this conference in person. Priority will be given to early carer researchers who are facing financial barriers.

To apply, use the dedicated bursary application link on the registration site.

Please be prepared to explain why you are applying for funding and to answer questions about your work. Submit your application before the bursary deadline to ensure it is 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: Tuesday 30 January 2024 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. Presenters of oral presentations are expected to be onsite for the duration of the conference, whereas those presenting posters can do so in person or virtually.

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

If you have already completed your registration and subsequently wish to submit an abstract, or wish to submit a second abstract, please follow these instructions.

The scientific programme committee will assess your abstract after the deadline has passed and you will be notified whether you have been selected to present 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; poster board numbers will be allocated at the conference. All those accepted for a poster presentation will be given the opportunity to upload a short video describing their work.

With thanks to our sponsors:

If you are interested in supporting this meeting, please contact us.

For more information about the benefits of having a presence at this meeting, see our sponsorship page.

Delegate feedback from Genomics of Rare Disease 2023

‘I believe that scientific meetings such as this one are critical for advancing our collective understanding of rare diseases and finding new ways to diagnose, treat, and ultimately cure these often devastating conditions’.

‘GRD is the perfect mix: it is a small meeting with a very focused topic, but a broad range of approaches and attendees’.

‘The networking is superb and a primary reason I find the conference so valuable’.

‘The small size of the conference and way the poster session and meals were set up helped me connect to a lot of different people’.

‘The venue was wonderful, best conference venue I have been too (excluding Hawaii but that’s hard to compete with)’.