Course Catalogue

Laboratory Genetics: from genotype to therapy MED5700

  • Academic Session: 2026-27
  • School: School of Medicine Dentistry and Nursing
  • Credits: 40
  • Level: Level 5 (SCQF level 11)
  • Typically Offered: Semester 1
  • Available to Visiting Students: No
  • Collaborative Online International Learning: No
  • Curriculum For Life: No

Short Description

This course, developed in collaboration with the West of Scotland Centre for Genomic Medicine, provides students with a robust grounding in the principles and laboratory practices of Medical Genetics and Genomics. Emphasis is placed on the scientific and technical workflows underpinning modern genetic testing, including the selection, performance and analytical interpretation of a wide range of laboratory investigations. Students will explore how genomic variation is detected, validated and reported, and how laboratory data contribute to understanding the relationship between genotype, phenotype and personalised therapy. Students develop the ability to critically evaluate scientific literature and communicate evidence through structured scientific writing.

Timetable

Semester 1 weeks 1-12

Mondays and Tuesdays

Wednesdays for lab sessions weeks 2-6

Requirements of Entry

None

Excluded Courses

None

Co-requisites

None

Assessment

Examination (40%): case analysis problem solving,

Coursework (60%): A data/case analysis critical report of approximately 2500 words (55%) and a reflection on the report (5%).

Main Assessment In: December

Course Aims

This course aims to give MSc students a working knowledge of diagnostic laboratory methods for the investigation of patients with suspected genetic disorders, or a family history of genetic disorders. In addition, students will develop their problem solving, communication, critical thinking and academic writing skills (aligned to graduate attributes Subject Specialist, Effective Communicators, and Independent and Critical Thinkers).

Intended Learning Outcomes of Course

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

1. Discuss the molecular basis of human genetic disease using clinical significant examples.

2. Discuss commonly used genetic laboratory diagnostic techniques for the investigation of patients with suspected genetic disorders, or a family history of genetic disorders, and interpret data from such tests.

3. Interpret, and apply, the HGVS and ISCN nomenclature systems for DNA alterations and chromosomal aberrations/abnormal karyotypes.

4. Describe and apply the strategies which may be employed to identify whether genetic variants are benign (polymorphisms) or pathogenic (causative).

5. Discuss and critically evaluate appropriate diagnostic testing strategies for patients described in clinical scenarios.

Minimum Requirement for Award of Credits

No exceptions