Module details for Advanced Medical Genetics


This module is designed to provide an advanced insight into current and emerging advanced aspects of human medical genetics.


The aim of this Module is to provide the student with a critical understanding of the molecular basis, screening, investigation and treatment of genetic diseases.

Learning Outcomes

By the end of this module the student should be able to:

1.  Critically discuss the genetic basis of selected human genetic diseases.

2.  Critically discuss the investigative and diagnostic techniques relevant to clinical genetics.

3.  Critically discuss emerging genetic therapies for selected human diseases.

Indicative Content

1 Principles and concepts in human genetic diseases

Major sources and forms of genetic disease will be considered at an advanced level. To include (inter alia): developmental aberrations, polygenic effects and epigenetic changes. Examples of specific disorders - specific cases selected of which to be for the coursework (individualised titles) - include (inter alia): haemoglobinopathies, developmental disorders, inherited forms of blindness, muscular dystrophy, hereditary cancers, neurodegenerative conditions and psychiatric disorders.

2 Techniques relevant to clinical genetics

The focus will be on emerging technologies. Pre-implantation diagnosis. Pre-natal screening and testing. The use of sequencing for medical diagnostics and screening. Bioethics of genetic screening and testing. Practical work is likely to focus on DNA extraction, PCR, DNA sequencing and fragment analysis in disease diagnosis.

3 Genetic therapies for human diseases

Therapies in relation to the selected human diseases covered in Indicative Content item 1 (above). Somatic gene therapy: in vivo and ex vivo approaches. Gene therapy for cancer. Gene targeting and gene editing. Germline genetic modification. Bioethics of genetic therapies.

Teaching and Learning Work Loads

Teaching and Learning Method Hours
Lecture 36
Tutorial/Seminar 12
Practical Activity 12
Assessment 78
Independent 62
Total 200

Guidance notes

SCQF Level - The Scottish Credit and Qualifications Framework provides an indication of the complexity of award qualifications and associated learning and operates on an ascending numeric scale from Levels 1-12 with SCQF Level 10 equating to a Scottish undergraduate Honours degree.

Credit Value – The total value of SCQF credits for the module. 20 credits are the equivalent of 10 ECTS credits. A full-time student should normally register for 60 SCQF credits per semester.


We make every effort to ensure that the information on our website is accurate but it is possible that some changes may occur prior to the academic year of entry. The modules listed in this catalogue are offered subject to availability during academic year 2021/22 , and may be subject to change for future years.