Gwybodaeth Modiwlau

Module Identifier
Module Title
Academic Year
Semester 2
Other Staff

Course Delivery

Delivery Type Delivery length / details
Lecture 13 x 1h lectures
Seminars / Tutorials 2 x 3h special topics presentations


Assessment Type Assessment length / details Proportion
Semester Assessment Special topics mini-tests  15%
Semester Assessment Group work  35%
Semester Exam 2 Hours   Written examination  2 hour theory exam (50%) Groupwork assessment (35%) Special topics mini-tests (15%)   50%
Supplementary Assessment Two essays set on special topics (20% each)  40%
Supplementary Exam 2 Hours   2 hour theory exam (60%) Two essays based on special topics (2 x 20%)   60%

Learning Outcomes

On completion of the module students should

  • be able to describe the structure and organisation of the human genome, and discuss the impact of patterns of gene expression on human health and phenotypic diversity.
  • be able to explain the relationship between genetics to biochemistry in the context of human health and disease, and discuss the biochemical mechanisms by which the genome can influence disease susceptibility and severity, treatment options, or diagnostic approaches.
  • demonstrate a detailed knowledge of the genetics and biochemistry of a specific biomedical area gained through an intensive group study of a project topic.


Many diseases have a genetic basis and these have often been difficult to treat and sometimes impossible to cure. Many possible approaches to treating disease are also hampered because of genetic `barriers?. These diseases and treatment problems are the result of the biochemical consequences of gene expression. With our growing knowledge of human genetics and the development of new technologies we are entering an era in which genetics will become an opportunity not a problem. As our understanding of the links between genetics and biochemistry develops we can now develop targeted treatments, understand treatment consequences, and predict the risks for individuals possessing a particular gene or allele. In this module we will discuss the current state of our knowledge of the human genome and explore the links between genes and the biochemical basis of disease and treatment.


The module will begin with a series of lectures introducing cell division, stem cells and imprinting followed by a detailed examination of the structure of the human genome. The series finishes with a section on immunogenetics which is a rich source of examples of the diversity and complexity of the human genome and its expression. These lectures* lay the foundations for understanding the fundamental concept of the gene and illustrate the key roles played by gene structure on the biochemistry of cells. The module finishes with a lecture on ethics given by Dr Glyn Jenkins.
Following this section there will be a short series of lectures or workshops serving to introduce topics which will form the basis of assessed group work. The class will be split into small groups (precise size and number of groups will be determined once the class size is known) and each group will be randomly allocated a topic from the following list:
  • Cystic fibrosis
  • Alcohol metabolism
  • Transplantation
  • Blood groups
  • HIV
  • Other topics may be added depending upon class size. Each group'r task will be to prepare a teaching presentation on their allotted topic to be given to the entire class during end of semester presentation workshops. These topics will give us an opportunity to move from genes to the resulting effects on the biochemistry of cells (which could include a wide range of aspects from biochemical pathways through to medical interventions and diagnosis). Foundation texts will be provided (and made available to all students on the module) which will form the starting point for your group work. Support and guidance will be provided in the form of the introductory topic lectures, detailed documented guidelines (including explicit marking criteria), and optional `surgeries?.
  • Lecture course: Cell Division and Stem Cells , Human genome I: chromosomes, Human genome II: highly repetitive sequences, Human genome III: moderately repetitive sequences, Human genome IV: human genes, Human gene mapping, Immunogenetics - B cell antibody diversity, Immunogenetics - T cells, HLA and tissue transplants, Ethics.


This module is at CQFW Level 5