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Genomics of Rare Disease

March 25 - March 27

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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.

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.

  • Bursary Deadline – 16 January 2024
  • Abstract Deadline – 30 January 2024
  • In person registration Deadline – 27 February 2024
  • Virtual registration Deadline – 18 March 2024

Register to Attend


The conference will start at approximately 13:00 on Monday 25 March 2024 and close at approximately 14:30 on Wednesday 27 March 2023.

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

Download the draft programme 21 Dec 2023 (116 KB)

Venue

Wellcome Genome Campus
Hixton
Saffron Walden, CB10 1SA
+ Google Map

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