Human Molecular Genetics & Disease

University of Queensland

Course Description

  • Course Name

    Human Molecular Genetics & Disease

  • Host University

    University of Queensland

  • Location

    Brisbane, Australia

  • Area of Study

    Biology, Biomedical Sciences, Genetics, Molecular Biology

  • Language Level

    Taught In English

  • Prerequisites

    Pre-Requisites: BIOL2202

    Recommended Prerequisite: BIOC2000, BIOL2200

    Assumed Background:

    A basic understanding of the structure, function and regulation of eukaryotic genes.

    A basic understanding of molecular and cellular concepts and of DNA, RNA, proteins and other macromolecules.

  • Course Level Recommendations


    ISA offers course level recommendations in an effort to facilitate the determination of course levels by credential evaluators.We advice each institution to have their own credentials evaluator make the final decision regrading course levels.

    Hours & Credits

  • Host University Units

  • Recommended U.S. Semester Credits
  • Recommended U.S. Quarter Units
  • Overview

    Course Description
    BIOC3003 is an advanced research-informed course on the molecular genetics of human disease. Topics include: single gene disorders, multifactorial disorders; cancer genetics; epigenetics; identification and analysis of human disease genes. The course provides students with an overview of human genetic disorders and how current research is impacting on their clinical management, in terms of more accurate and informative diagnostics and more effective targetted therapies. The course is designed for students with a good understanding of Genetics and Biochemistry at second year University level.

    Course Introduction
    Nearly all hospital admissions, apart from child birth, infections and trauma injuries, are the result of genetic disease. In addition, an individual's predisposition to disease and their response to infection and wound healing has a strong genetic component. The diagnosis and treatment of genetic diseases requires a thorough understanding of molecular genetics and molecular biology. This course consists of six related units that will cover the most significant areas of modern molecular genetics.

    These six units are:
    Unit One - Single Gene Disorders:
    This unit explores the ?One gene, one protein, one disease? paradigm. The unit will examine the biochemical basis of recessive and dominant disorders.

    Unit Two - Identification of Disease Genes:
    This unit examines the various techniques used to identify disease-causing mutations and genetic variations that predispose to disease.

    Unit Three - Introduction to Population Genomics:
    This unit explores the genetic information that can be gain from ?population sequencing? of thousands of genomes.

    Unit Four - Multifactorial Gene Disorders:
    This unit explores the complex interaction between genetic variation and environmental factors that underlie complex genetic diseases.

    Unit Five - Cancer Genetics:
    This unit explores the role of DNA mutations in both inherited and sporadic cancers, and the impact of these mutations on tumour progression and the cancer microenvironment.

    Unit Six - Epigenetics:
    This unit explores the role of epigenetic mechanisms in human disease (eg. Imprinting).

    Each Unit consists of 2 to 4 lectures, and related SDLs and/or PBLs. For some modules, the SDL will be replaced by lecture/tutorial combination.

    SDL = Self-Directed Learning exercise. This involves giving the students a current research topic, a list of recent reviews and papers and then asking them to answer approximately 10 questions pertaining to the selected topic.
    PBL = Problem-Based Learning. This teaching method is based on the Harvard Law School model. It involves two meetings with students (and a tutor). In the first meeting they are given a problem and a list of resources that they can use to solve that problem. The students are asked to generate hypotheses based on their current knowledge of the area. Clues are given throughout the first meeting, as their discussion of the group progresses, enabling them to refine their hypotheses and suggest ways in which to address them. The aim of the first meeting is to identify their own knowledge gaps, with a view to closing the gaps and thus being able to attempt to solve the problem by the second meeting. In the second meeting they discuss the outcomes of their research and further refine their hypotheses. They are then given the solution to the problem for further discussion. Example: A familial breast cancer case with no detectable coding region mutation (solution = a promoter deletion).


    Learning Objectives
    After successfully completing this course you should be able to:
    • Appreciate the contribution of genetic abnormalities to human disease
    • Understand and articulate the contribution of genetic differences to predisposition to disease
    • Appreciate the over-simplicity of the one gene: one disease model
    • Understand and articulate the biochemical and molecular biology processes underpinning genetic disorders
    • Understand the experimental approaches that are used to determine the genetic basis of human disease and to be able to articulate how these methods are employed
    Class Contact
    3hours Lecture, 1.5 hours Practical/Lab


Course Disclaimer

Courses and course hours of instruction are subject to change.

Eligibility for courses may be subject to a placement exam and/or pre-requisites.

Some courses may require additional fees.

Credits earned vary according to the policies of the students' home institutions. According to ISA policy and possible visa requirements, students must maintain full-time enrollment status, as determined by their home institutions, for the duration of the program.