SHE Level 4
SCQF Credit Points 20.00
ECTS Credit Points 10.00
Module Code MHC726389
Module Leader Patricia Martin
School School of Health and Life Sciences
Subject Biological and Biomedical Sciences
  • A (September start)

Pre-Requisite Knowledge

Molecular Diagnostics or equivalent.

Summary of Content

This module will develop an understanding of the molecular genetic basis of inherited and somatic disease in humans with a particular focus on cancer, diabetes and atherosclerosis.


Complex Genetic Disease (6 lectures + tutorials) Molecular Pathology, identification of disease genes and Genome wide associated scanning (GWAS), epigenetics including X-inactivation and imprinting; microRNAs; genome editing and ethical considerations. Cancer (10 lectures + tutorials) The biology of cancer cells; Oncogenes, e.g. src, abl, ras; Tumor suppressor genes, e.g. Rb, NF1, WT1, APC, Smad4, p53; Cell cycle and cancer e.g. p53, Rb, p16, p21, p27, ATM/ATR, CHK1/CHK2, ARF, B-raf ; Identification of cancer genes in the post genomic era, Cancer Genome Project, The Cancer Genome Atlas, Atherosclerosis (4 lectures + tutorials) Role of lipoproteins in atherosclerosis; Monogenic disorders of LDL metabolism: LDLR, APOB, ARH and PCSK9; Monogenic disorders of HDL metabolism Diabetes (4 lectures + tutorials) Introduction to Diabetes; Monogenic diabetic disorders; Type 2 diabetes: candidate genes; Type 2 diabetes: genome wide scanning; Aetiology of type 2 diabetes: a polygenic disorder; Aspects of the treatment of diabetes mellitus

Learning Outcomes

On successful completion of this module the student should be able to:1. Demonstrate an advanced understanding of experimental approaches to disease gene discovery and function.2. Recognise bioinformatics informs progress in molecular genetics.3. Discuss the diagnosis, biology, molecular pathology and treatment of inherited and somatic diseases.4. Evaluate current literature illustrating ability to synthesis knowledge derived from multiple sources.

Teaching / Learning Strategy

The module initially utilizes a convergent teaching approach with each topic in order to ensure that the different student groups taking the module quickly achieve the required background. Thereafter, each lecture topic is discussed using evidence based teaching which facilitates divergent thinking . Evidence based learning of new scientific findings develops the student's ability to critically analyse new ideas and how these extend current concepts. The subject areas covered in the module are at the leading edge of science providing the student with an advanced understanding. Tutorials will support student centred learning and technologies including TurningPoint will be used for students to assess their understanding. A written critical evaluation will promote both engaged learning and broader deeper thinking of often complex subject material. The students consider diseases which have major worldwide health implications which combined with knowledge of the latest technologies for disease investigation, diagnosis and treatment provides global learning opportunities of significant real world problems .

Indicative Reading

Molecular Biology of the Cell, 6th edition (2015), Garland Science The Biology of Cancer, Robert A. Weinberg, 2nd edition (2014), Garland Science Genetics and Genomics in Medicine, Tom Strachan (2015), Garland Science Students will engage with broader reading from published research literature on specific topics

Transferrable Skills

Information retrieval ; Independent learning ; Critical evaluation ; Interpretation and analysis of data ; Written and oral communication.

Module Structure

Activity Total Hours
Tutorials (FT) 14.00
Independent Learning (FT) 142.00
Assessment (FT) 20.00
Lectures (FT) 24.00

Assessment Methods

Component Duration Weighting Threshold Description
Exam 01 3.00 70.00 35% Essay type questions
Course Work 01 n/a 30.00 35% Critical Essay