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    The genetic basis of human disease states. Techniques and approaches to find disease-causing genetic variants. Chromosomal analysis and its use in the clinic. Mendelian disorders, the genetics of complex common diseases (including cancer) and gene-environment interactions. Public Health and human genetics including ethical considerations. Genetic counselling.

    GENE313 aims to give a broad overview on how genetics is used in medical practice today and aims to anticipate developments in the future. Material is presented that explores how the genetic basis of single-gene Mendelian disorders, complex traits, cancer and epigenetic mechanisms are characterised and then employed clinically. The lecture course is complemented by a laboratory course that gives hands-on experience of many of the methods that are used diagnostically including karyotypic analysis, medical bioinformatics, prenatal diagnosis, DNA sequence analysis and characterisation of epigenetic anomalies.

    About this paper

    Paper title Medical Genetics
    Subject Genetics
    EFTS 0.15
    Points 18 points
    Teaching period Semester 2 (On campus)
    Domestic Tuition Fees ( NZD ) $1,173.30
    International Tuition Fees Tuition Fees for international students are elsewhere on this website.
    GENE 221, GENE 222, GENE 223
    Schedule C
    (i) In approved cases, another 200-level biological sciences paper may be substituted for one of GENE221-GENE223. (ii) This paper includes additional non-streamed lab time that does not appear in the timetable. Please contact the department for further details.
    Appropriate for students majoring in genetics, other biological and health sciences and molecular biotechnology.

    Teaching staff

    Convenor: Professor Stephen Robertson (Department of Women's and Children's Health)

    Other teaching staff:

    Dr David Markie (Department of Pathology)

    Associate Professor Anita Dunbier (Department of Biochemistry)

    Professor Greg Jones (Department of Surgery)

    Dr Erin Macaulay (Department of Pathology)

    Dr Gillian MacKay (Genetics Programme)

    Paper Structure

    The lecture course is divided into six themes:

    • Clinical Genetics including Chromosomal analysis, Mendelian conditions and Gene-Environment interactions in Medicine.
    • Next generation sequencing and its application to medicine including discovery and curation of Genetic Variants.
    • Epigenetics.
    • The Genomics of Common Medical Conditions.
    • Cancer Genomics.
    • Genomics and Public Health; Ethics and Genomics in Clinical Practice.

    The lecture course is complemented by a laboratory course, which provides training in data analysis and relevant genetic methods, including Pedigree analysis, Mendelian genetics, chromosomal analysis, gene variant annotation and curation, gene by environment interactions and epigenetics.

    Teaching Arrangements

    The labs are held in the Genetics Laboratory, Room G09, Biochemistry building.

    GENE 313 labs are held in the second half of Semester 2 (GENE 314 labs are held during the first half of semester 2):

    Lab streams are:

    Monday 2pm - 6pm / all day Tuesday or Thursday 2pm - 6pm / all day Friday (note you can attend lectures during the morning sessions).


    Textbooks are not required for this paper.

    A book that might be helpful is:

    New Clinical Genetics 4th edition, Andrew Read and Dian Donnai, 2020.

    Most important is the supplementary reading material that is lodged on Blackboard as indicated by course teachers. A reading list is also to be found in the course handbook.

    Graduate Attributes Emphasised
    Global perspective, Interdisciplinary perspective, Lifelong learning, Scholarship, Critical thinking, Cultural understanding, Ethics, Information literacy, Research, Self-motivation, Teamwork.
    View more information about Otago's graduate attributes.
    Learning Outcomes

    The broad objectives of GENE313 are to:

    • Understand single-gene inheritance, the molecular diagnosis of disease states and the challenges that massively parallel sequencing technology brings to medicine. Interpretation of chromosomal abnormalities and genomic disorders in clinical practice including the prenatal setting.
    • Gain familiarity with the genetic aetiology of complex disease and, in particular, the interplay between genes and environment.
    • Be conversant with the design considerations as applied to association analysis.
    • Understand some of the molecular mechanisms that contribute to the development of cancer and to develop an appreciation of how genetic/molecular information may be used in the development of diagnostics and therapeutics in oncology.
    • Develop an awareness that epigenetics impacts on disease expression over the human lifespan.
    • Critically evaluate the strengths and weaknesses of the use of genetic tools in public health and the ethical principles underlying its use.


    Semester 2

    Teaching method
    This paper is taught On Campus
    Learning management system


    Stream Days Times Weeks
    A1 Monday 09:00-09:50 29-35, 37-42
    Tuesday 09:00-09:50 29-35, 37-42


    Stream Days Times Weeks
    Attend one stream from
    A1 Monday 14:00-17:50 37-41
    Tuesday 14:00-17:50 37-40
    A2 Thursday 14:00-17:50 37-41
    Friday 14:00-17:50 37-40
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