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Emma Baple, Harriet Copeland, and Andrew Crosby

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Topics Covered

  • A range of rare inherited diseases, and their genetic basis
  • What we mean by the term ‘Community Genetics’
  • Mechanisms and methodology for investigating the genetic basis of rare diseases in a community setting
  • The use of whole genome analysis in the clinical management of patients within a community setting
  • The importance of understanding a patient’s ethnicity, family history and cultural beliefs and practices, in formulating a differential diagnosis and for ensuring equality of health care and special educational needs provision
  • Mechanisms for dissemination of research findings to ensure maximum community, and international, impact and benefits

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