Genomics of Rare Disease

Our 19th conference on rare disease will present an exciting blend of genomic science and clinical medicine. The meeting will explore how cutting-edge research informs understanding of rare disease and how the biology is being translated into clinical care.

The 2025 programme will highlight non-coding variants and the implication of rare disease on common diseases. Advances in therapeutics, next-generation functional testing, and the impact of genomics diagnostics and research on rare disease across the globe will also be showcased.

We welcome abstract submissions on all themes of this meeting and more broadly related to rare diseases. Abstracts will be selected for presentation in the main sessions, alongside talks from invited global experts. Other accepted abstracts can be presented as both lightning talks in the auditorium and posters. We encourage early career researchers to use the poster sessions to get feedback on planned work or research findings.

This friendly meeting has a strong history of supporting the exchange of ideas between clinicians, clinical scientists, researchers and bioinformaticians. There are plenty of opportunities to establish collaborations through face-to-face networking over inclusive meals.

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

The conference will run from 13:00 on Wednesday 9 April until 14:30 on Friday 11 April 2025

• What’s new in rare disease?
• Next generation functional testing
• Therapeutics
• Non-coding variation
• Bridging the gap between rare and common disease
• Genomics of rare diseases around the world

Scientific programme committee

Anna Lindstrand
Karolinska Institutet, Sweden

Claudia Gonzaga-Jauregui
International Laboratory for Human Genome Research, Mexico

Malte Spielmann
University of Lübeck, Germany

Stephen Montgomery
Stanford Medicine, USA 

Confirmed speakers to date

Stephen Kingsmore - Keynote Lipski Lecture
Rady Children's Institute for Genomic Medicine, USA

Nadav Ahituv
UCSF, USA

Fowzan Alkuraya
Chief Medical and Genomics Officer at Lifera Omics and Professor of Human Genetics at Alfaisal University, Saudi Arabia

Hagit Baris-Feldman
Tel Aviv University, Israel

Kinga Maria Bujakowska
Harvard Univeristy, USA

Têmis Maria Felix
Hospital de Clínicas de Porto Alegre (HCPA), Brazil

Gregory Findlay 
The Crick Institute, UK

Juan Fortea 
Sant Pau Hospital, Spain

Peter Krawitz
University of Bonn, Germany

Hilary Martin 
Wellcome Sanger Institute, UK

Nicky Whiffin 
University of Oxford, UK

Zornitza Stark 
Murdoch Children's Research Institute, Australia

Organisers - Wellcome Connecting Science

Fran Goddard – Event Organiser
Jane Murphy – Programme Developer

Registration deadline: Tuesday 11 March 2025 (in person) at 23.59 GMT | 1 April 2025 (virtual) 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).

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

Accommodation

Booked accommodation is for the nights of 9 and 10 April 2025.
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 14 January 2025 at 23.59 GMT

Wellcome Connecting Science offers registration bursaries (usually up to 50% of the registration fee) to those who would benefit from attending the conference but face financial barriers to attending events. Priority is usually given to PhD students, applicants from lower and middle income countries, or those from underrepresented / minoritised groups. Other early career researchers will be considered if funds allow. We encourage applicants to submit an abstract on their research results or ongoing project before the bursary deadline. Final edits can be made to the abstract up until the abstract deadline. Bursary applications without abstracts will only be considered in exceptional circumstances.

To apply for funding support, please register and then select that you want to apply for a bursary. This will direct you to the online application form. Please be prepared to explain why you need support and how you will benefit from attending the conference. Once you have submitted the application form, you will be emailed an abstract portal link. Please use this to submit an abstract before bursary deadline.

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 28 January at 23:50 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.

To submit an abstract, you must first register for the conference. Once your registration is completed, you will be emailed a link to submit to the abstract submission portal. If you wish to edit your abstract following submission, please use the link in the abstract acknowledgement email.

All abstracts must be submitted and, if desired, edited by the deadline. The scientific programme committee will then assess your abstract and you will be notified about 2 weeks after the deadline whether you have been selected to present an oral or poster presentation.

If you require acknowledgement that your abstract has been accepted earlier than this, please contact the conference organiser.

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.

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.