We are currently in the process of upgrading the members area of the website, you will be unable to access membership specific files while the upgrade is in progress. To manage your membership please access my.bsgm.org.uk.

Genomics of Rare Disease

Start Date: 05/04/2017

End Date: 07/04/2017

Cost: £317- £681

Venue: Wellcome Genome Campus, Hinxton, Cambridge, UK


Dr Treasa Creavin

We are pleased to announce the eleventh in our series of meetings on rare diseases, which will present an exciting blend of genomic science and clinical medicine. This year's theme is 'Discovery and Care'; we aim to explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease. This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research scientists, bioinformaticians and technology developers interested in understanding the impact of recent advanced in genomics and technology on the care of patients with rare diseases.

Topics will include:

  • The emerging role of non-coding variants in disease
  • Mosaicism and imprinting in disease and health
  • New technologies to understand rare disease mechanisms
  • The intersection of monogenic and polygenic disease
  • Rare disease clinical trialling
  • Ethical challenges in genomic medicine
  • Developmental genetics
  • Cellular and animal modelling of disease

Registration Deadline: 8th March 2017. Register now.

Contact Details:

For further information, please contact:   scientificconferences@wellcomegenomecampus.org

Link: https://coursesandconferences.wellcomegenomecampus.org/events/item.aspx?e=636

In this section

    Latest News

  • Fundamentals in Clinical Genomics 2018

    posted 22nd November 2017  |  0 Comments

    As a Consultant or Trainee in Clinical Genetics, are you feeling confident about genomics, variant interpretation, ACMG variant classification and missense constraint? If brushing up on these and similar topics would lift your clinical practice and prepare you for using WGS data in your clinical practice, why not come along to the Fundamentals of Clinical Genomics course at Hinxton in Jan 2018.

    Read more