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.

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