SHE Level 4
SCQF Credit Points 20.00
ECTS Credit Points 10.00
Module Code MHC723329
Module Leader Patricia Martin
School School of Health and Life Sciences
Subject Biological and Biomedical Sciences
  • A (September start)

Pre-Requisite Knowledge

Molecular diagnostics (M3C723501) 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 Mendelian genetics & molecular analysis, Mendelian genetics and complications of interpreting pedigree patterns, Organization of the human genome, x-inactivation, microRNAs, molecular pathology (Genome wide association studies) Models of disease Rodent, zebrafish, , transgenic, KO, KD and genome editing Cancer The biology of cancer cells Oncogenes, src, abl, ras Tumor suppressor genes, Rb, NF1, WT1, APC, Smad4, p53 Cell cycle and cancer p53, Rb, p16, p21, p27, ATM/ATR, CHK1/CHK2, ARF Identification of cancer genes in the post genome era, Cancer Genome Project, The Cancer Genome Atlas, B-raf Atherosclerosis Role of lipoproteins in atherosclerosis Monogenic disorders of LDL metabolism: LDLR , APOB and ARH Monogenic disorders of LDL metabolism: PCSK9 Monogenic disorders of HDL metabolism Diabetes 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 related to diseases discussed in lectures5) Demonstrate the synthesis of knowledge and information 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 achieves 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 students 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. Student centred learning involves continuous assessment promoting both engaged learning and broader deeper learning 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, 6 th edition (2015), Garland Science The Biology of Cancer, Robert A. Weinberg, 2 nd edition (2014), Garland Science Genetics and Genomics in Medicine, Tom Strachan (2015), Garland Science

Transferrable Skills

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

Module Structure

Activity Total Hours
Assessment (FT) 20.00
Lectures (FT) 30.00
Independent Learning (FT) 150.00

Assessment Methods

Component Duration Weighting Threshold Description
Coursework 1 n/a 20.00 35% Student Centrered Learning assess
Exam (Exams Office) 3.00 80.00 35% Essay type questions