Medical and Molecular Genetics

Year 0, Semesters 1 and 2 Core Medical Science

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Code CLS5011-B
Credits 20
Graduate Attributes
Syllabus Chromosomes and chromosomal abnormalities; Cytogenetic diagnostic techniques; Autosomal dominant and recessive diseases; Sex-linked diseases; Multifactorial inheritance; Pedigree analysis; Gene expression and gene Regulation; Current techniques for Gene expression analyses: DNA sequencing, Real-time PCR, Reporter Assays and Western blot analyses; Human Genome Project; Clinical bioinformatics; Mutagenesis; RNA decay and selenocysteine incorporation; Investigation and resolution of genetic disorders; Ethical, social and psychological issues associated with gene testing and gene therapy; Genetic counselling.
Lecture 27 
Seminar 19 
Lab 4 
Private Study 150 

Unit Learning Outcomes

  • 1 Compare and evaluate the clinical manifestation of a range of genetic disorders and explain their underlying mechanisms.
  • 2 Interpret and evaluate information gained from routine techniques used in medical and molecular genetics
  • 3 Use analytical, problem-solving, and written communication skills.

Course Learning Outcomes

  • 17 Research, review and critically analyse science and health-related literature and experimental data using independent learning skills.
  • 18 Demonstrate a critical understanding and application of the underlying principles relating to the pathology and treatment of common diseases and disorders.
  • 20 Understand the application of current, future, and emerging technologies in healthcare and scientific research.

Assessment Breakdown

The world of genetics awaits you; in this module you will apply the principles of medical and molecular genetics to investigate genetic disorders. The module aims to facilitate the development and application of knowledge of these principles and associated techniques in relation to a range of underlying genetic conditions The characteristics, including the appearance of a person depend on the functions of genes. There are more than 3000 genetic disorders including pulmonary arterial hypertension (PAH), Duchenne muscular dystrophy and cystic fibrosis. There is no cure for genetic disorders. However, genetic technologies have a rapidly expanding role in healthcare and their use in areas of disease prediction and treatment is beginning to emerge. Scientific advancements in Medical and Molecular Genetics can enhance the diagnosis of disease, improve the prediction of risk, and direct personalised treatment. Genetic testing to predict individual risk of developing certain diseases, such as breast cancer and PAH, can greatly reduce the risk of developing disease by counselling and timely interventions. Similarly, genetic markers can also be used to predict an individual’s response to drug therapy. Advances and breakthroughs in genetic science are frequently in the news – almost every new breakthrough raises a fresh ethical, social and moral debate about the uses to which genetic science will be put, particularly in reproductive medicine that in turn raises issues relating to identity and privacy.