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.