Wellcome Advanced Courses and Scientific Conferences – Genomics of Rare Disease

Scientific illustration of viruses
27 March, 2019 - 29 March, 2019

Wellcome Genome Campus, Hinxton, Cambridge, CB10 1RQ, UK

General Information

Genomics of Rare Disease will present an exciting blend of genomic science and clinical medicine. This meeting will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting, we also examine the opportunities and challenges for clinical practice.

Topics will include:

  • Solving the unsolved
  • Informatics
  • Developmental genetics
  • Electronic health records
  • Functional genomics
  • Data sharing – legal and ethical issues
  • Intersection of polygenic and monogenic disorders
  • New therapeutic approaches
Deadlines (at 23:59 UTC):
  • Early bird deadline 02 January 2019
  • Bursary deadline 15 January 2019
  • Abstract deadline 29 January 2019
  • Registration deadline 26 February 2019

Deadline for submissions: 29th January 2019

Meeting organisers:



Keynote speaker:
Nancy Cox – Vanderbilt University School of Medicine, USA

Confirmed speakers:
Nadav Ahituv – University of California San Francisco, USA
Ewan Birney – EMBL-EBI, UK
William Gahl – National Institutes of Health, USA
Mike Inouye – University of Cambridge, UK
Frank Kaplan – University of Pennsylvania, USA
Tuuli Lappalainen – New York Genome Center, USA
Katrin Männik – University of Lausanne, Switzerland
Aarno Palotie – Finnish Institute for Molecular Medicine, Finland
Jennifer Posey – Baylor College of Medicine, USA
Heidi Rehm – Massachusetts General Hospital, USA
Malte Spielmann – Max Planck Institute for Molecular Genetics, Germany
Clara van Karnebeek – Amsterdam University Medical Centres, The Netherlands
Rosanna Weksberg – The Hospital for Sick Children, Canada
Caroline Wright – University of Exeter, UK