Wellcome Connecting Science | Genomics of Rare Disease

Wellcome Connecting Science | Genomics of Rare Disease 24 April, 2023 - 26 April, 2023

Wellcome Genome Campus, Hinxton, CB10 1RQ, UK and virtual

Web Address



Deadline: 17/04/2023
Click here to register

Submit your abstract here

General Information

Our 17th conference on rare diseases will discuss the latest findings in genetic mechanisms of disease and will highlight advances in therapeutic approaches.

This meeting provides an excellent multi-disciplinary forum for clinicians, research and clinical scientists, and bioinformaticians interested in recent advances in genomics and understanding the impact on the care of patients with rare diseases.

This year’s conference will focus on the genomic asis of rare diseases, and will explore new technologies and ‘omics’ approaches in rare disease research. Strategies for translating advances into clinical care and opportunities to implement genomic medicine into healthcare systems will be discussed.  Potential approaches to preventing rare disease, and whether prevention should be the goal, will also be explored.

The programme will include short oral presentations selected from abstracts, lightning talks, posters and networking opportunities for a highly interactive meeting.

Deadline for submissions: 28 February 2023

Meeting organisers:

Wellcome Connecting Science




Cynthia Morton – Harvard Medical School, USA
David Lui (virtual) – Harvard University, USA
Malgorzata Borowiak – Adam Mickiewicz University, Poland
Claudia Gonzaga-Jauregui – Universidad Nacional Autónoma de México, Mexico
Jay Gopalakrishnan – Heinrich-Heine-University, Düsseldorf Germany
Lidewij Henneman – Amsterdam UMC | Vrije Universiteit Amsterdam, Netherlands
Nigel Laing – University of Western Australia, Australia
Tuuli Lappalainen  – KTH Royal Institute of Technology, Sweden
Dana Marafi –  Kuwait University, Kuwait
Danny Miller – University of Washington. USA
Alexandre Reymond – University of Lausanne, Switzerland
Peter Robinson – The Jackson Laboratory, USA
Kaitlin Samocha – Massachusetts General Hospital, USA
Robert Taylor – Newcastle University, UK