You will be expected to cover the medical genetics topics of your chosen case from the
perspectives of the scientist, clinician, and patient. The essay should contain a brief
description of the condition in question (no more than 150 words), followed by a concise yet
detailed discussion of the effects and medical genetics basis of the condition from the
scientist, clinician, and patient perspectives. For example, the scientist section would explain
the genetic causes and mechanisms of the genetic condition, the clinician perspective would
go into inheritance pattern, diagnosis and treatment, and the patient perspective would
discuss lifestyle, effects of the treatment, support networks and ethical considerations. Your
case report should be sourced from peer reviewed primary literature and may also include
first person accounts from patients. You may include genome browsers and patient support
websites as references if appropriate to your case study. You will be expected to critically-
appraise source material and integrate these sources of information to form a coherent
whole. The report should conclude with a brief paragraph that draws everything together.
Target audience:
Write for non-specialist scientists/clinicians, avoiding very specialist technical language and
the use of many abbreviations, and explaining those that are essential. Try to break up the
text with subheadings as appropriate and use evidence-based writing and clarify throughout
your essay the sources and strength of the evidence for key statements.
