Genomics of Rare Disease

The Genomics of Rare Disease conference has, for two decades, been a central forum where cutting-edge genomic research meets clinical application. It brings together scientists and clinicians to accelerate understanding and improve outcomes for those living with rare diseases.

2026 marks the 20th anniversary of this meeting, and this milestone offers an opportunity to recognise the progress made by the rare disease community since the first meeting in 2006, and to look ahead to the challenges and opportunities that will shape the future. 

We will delve into current and emerging themes in rare disease genomics, including prenatal and perinatal genomics, multiomics strategies, factors influencing penetrance, therapeutic breakthroughs, and new directions in research.

We welcome abstract submissions on all themes of the meeting and more broadly related to rare disease genetics. Selected abstracts will feature in the main sessions alongside talks from invited global experts. Others will be presented as lightning talks or posters, offering valuable opportunities for early-career researchers to share work, gain feedback, and make new connections.

This friendly and collaborative meeting has a proud 20-year history of connecting clinicians, scientists, and bioinformaticians. Delegates can expect plenty of opportunities to exchange ideas — both in person at the Wellcome Genome Campus and through interactive online participation.

Who should attend?

This meeting attracts a global and multidisciplinary audience, including:

• Genomic researchers and molecular biologists
• Clinicians including clinical geneticists
• Bioinformaticians and computational scientists
• Translational scientists and industry innovators
• Policymakers, funders, and patient advocates
• Students and early-career researchers

We look forward to showcasing:

• Keynote lectures from global leaders
• Invited speakers presenting research at the forefront of their respective fields
• Emerging talent through abstract-selected oral and poster presentations

The conference will run from 13:00 on Monday 27 April until 14:30 on Wednesday 29 April 2026

Sessions will cover: 

• Prenatal and perinatal testing – innovations in early diagnosis and intervention
• Multiomics approaches – advancing understanding of disease biology
• Factors affecting penetrance – examining how genetic changes influence phenotypic outcomes
• Therapeutics – progress in translating genetic discoveries into clinical interventions
• Looking Ahead – two sessions highlighting emerging directions and future challenges for the field

Throughout the conference there will be plenty of networking opportunities to foster collaboration across disciplines and geographies.

We will also be marking the anniversary during the conference — further details to follow.

Scientific programme committee

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

Hilary Martin
Wellcome Sanger Institute, UK

Stephen Montgomery
Stanford Medicine, USA 

Malte Spielmann
University of Lübeck, Germany

Zané Lombard
University of Witwatersrand, South Africa

Registration deadline:  30 March 2026 (in person) | 20 April 2026 (virtual)

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, virtual 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 or media pass.

Accommodation
Booked accommodation is for the nights of 27 and 28 April 2026.
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

Please check the UK government website for advice on whether you will need a visa or an electronic travel authorisation and how to obtain one: https://www.gov.uk/standard-visitor. 

Confirmed attendees requiring a letter to support a visa application should contact our events team.

Bursary deadline: 12 January 2026.

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 will be given to PhD students/trainees,  applicants from lower and middle income countries, or those from underrepresented/minoritised groups. Other early career researchers will be considered if funds allow.

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 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 your abstract before bursary deadline.

Applications without abstracts will only be considered in exceptional circumstances.

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: 2 February 2026

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.

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 acknowledgment that your abstract has been accepted earlier than this, please contact the event 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 also have the opportunity present a ~1 min ‘poster pitch’ summarising 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.