Clinical Genetics and Cellular Basis of Disease

Unit code: HBM3205 | Study level: Undergraduate
12
(Generally, 1 credit = 10 hours of classes and independent study.)
Footscray Park
Online Real Time
RBM2540 - Pathophysiology 2 (applicable for HBBM students ONLY)
RBM2560 - Medical Biochemistry (applicable for HBBM, NBSC students ONLY)
RBM2133 - Cell and Molecular Biology (applicable for HBBM, NBSC students ONLY)
(Or equivalent to be determined by unit coordinator)
Overview
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Overview

This capstone unit builds on foundation knowledge and skills relating to cellular, molecular and biochemical interactions in the body and how they contribute to the pathogenesis of disease. It includes a more specialised study of the human genome and the ways in which genes are expressed and regulated. Patterns and consequences of genetic inheritance – both Mendelian and non-Mendelian are also explored. Most importantly for biomedicine, the unit investigates the various ways in which genetic diseases manifest themselves: their symptoms, pathogenesis, diagnosis and treatment, if any. Relevant screening of populations, genetic counselling and ethical considerations will be discussed.

Learning Outcomes

On successful completion of this unit, students will be able to:

  1. Conceptualise the structure of the human genome, the functional significance of its various components and how gene expression is regulated;
  2. Scrutinise the various types of inheritance patterns, including both Mendelian and non-Mendelian inheritance;
  3. Elucidate genetic disease-causing mechanisms such as various types of DNA mutations, chromosomal abnormalities and epigenetic mechanisms;
  4. Analyse the genetic basis, symptoms, pathogenesis, and principles of diagnosis and treatment options of commonly encountered genetic diseases as well as diseases that have genetic risk factors; and
  5. Discuss the ethical implications of genetic screening and counselling in relation to diseases.

Assessment

For Melbourne campuses

Assessment type: Case Study
|
Grade: 15%
Case study and short answer activities (40mins)
Assessment type: Assignment
|
Grade: 25%
Scientific Infographic (1000 words)
Assessment type: ICT (Wiki, Web sites)
|
Grade: 30%
Podcast - information resource for patient population (5mins)
Assessment type: Presentation
|
Grade: 30%
Genetic counselling session (group presentation 10 minutes including question time)

Required reading

Selected readings will be made available via the unit VU Collaborate site.

As part of a course

This unit is studied as part of the following course(s):

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