Case Investigations in Medical Genetics MED5328

  • Academic Session: 2023-24
  • School: School of Medicine Dentistry and Nursing
  • Credits: 20
  • Level: Level 5 (SCQF level 11)
  • Typically Offered: Semester 2
  • Available to Visiting Students: No

Short Description

Students will work in groups to investigate complex clinical case scenarios: decide appropriate testing, analyse results from genetic tests, reach diagnoses where appropriate and, with reference to the literature, generate a concise and critical group report and individual scientific poster on an aspect relating to Medical Genetics.


Semester 2 weeks 1-6

Requirements of Entry



Students should have completed "Genetic Disease: from the Laboratory to the Clinic"


One group report marked by staff (30 %) with moderation of marks by peer assessment of contribution to the group activities.

Facilitator grade for student performance within the group (35 %)

Individual poster, graded by staff (35 %)

Are reassessment opportunities available for all summative assessments? No

Reassessments are normally available for all courses, except those which contribute to the Honours classification. For non Honours courses, students are offered reassessment in all or any of the components of assessment if the satisfactory (threshold) grade for the overall course is not achieved at the first attempt. This is normally grade D3 for undergraduate students and grade C3 for postgraduate students. Exceptionally it may not be possible to offer reassessment of some coursework items, in which case the mark achieved at the first attempt will be counted towards the final course grade. Any such exceptions for this course are described below.


The group-work nature of the group report in this course means that reassessment of this assessment is not possible.

[The assessment reflects performance in accomplishing goals working as part of a team, including generating ideas, providing critical comments on drafts of each others' work, and completing their own part of the work in a timely way whilst taking into account peer feedback.]

Reassessment of the poster component will be available.

Course Aims

The aims of this course are to:

■ provide students the opportunity to research the science underlying clinical case scenarios, providing possible diagnoses, suggesting further investigations and management options, and, if appropriate, critically evaluating prior handling of a case as described in the scenario;

■ provide opportunity for students to work within a group towards goals, and to evaluate the performance of themselves and their peers within the group.

Intended Learning Outcomes of Course

By the end of this course students will be able to:

■ work as part of a team to set and accomplish objectives including the generation of critical case reports;

■ critically evaluate the key issues in, and the management, of complex cases;

■ select and justify appropriate, relevant and cost-effective tests to help with diagnosis of a real case, and be able to interpret and evaluate the test results provided;

■ critically review the scientific literature relating to the issues surrounding a clinical case scenario;

■ assess the strengths and weaknesses of both their peers and themselves within their team.

■ present scientific information in a concise and visually interesting way to a specified audience.

Minimum Requirement for Award of Credits

Students must submit at least 75% by weight of the components (including examinations) of the course's summative assessment.