Medical Genetics

University of Otago

Course Description

  • Course Name

    Medical Genetics

  • Host University

    University of Otago

  • Location

    Dunedin, New Zealand

  • Area of Study


  • Language Level

    Taught In English

  • Prerequisites

    GENE 221, GENE 222, GENe 223

  • 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

  • Credit Points

  • Recommended U.S. Semester Credits
    3 - 4
  • Recommended U.S. Quarter Units
    4 - 6
  • Overview

    The genetic basis of common human diseases. Linkage as applied to the human genome. Techniques for gene mapping. Cytogenetics and its use in the clinic. Mendelian disorders and the genetics of complex diseases with particular reference to diabetes and cancer. Clinical human genetics including ethical considerations. Genetic counselling.

    GENE 313 aims to give a broad overview on how genetics impacts upon medical practice today and aims to anticipate developments into the future. Material is presented that explores how the genetic basis of single gene mendelian disorders, complex traits, cancer and epigenetic mechanisms are characterized and then employed clinically in medical practice. 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, DNA sequence analysis, association analysis and characterization of epigenetic anomalies.

    Teaching Arrangements
    All labs are held in Room G09, Biochemistry building.

    Course Structure
    The lecture course is divided into five modules:
    - Pedigrees and gene localisation
    - Chromosomes
    - Mutations and disease
    - Genotyping and diseases with multifactorial causation
    - Epigenetics

    The lecture course is complemented by a laboratory course, which provides training in data analysis and relevant genetic methods, including Pedigree analysis, Mendelian genetics and linkage, cytogenetics, mutation identification, gene by environment interactions and epigenetics.

    Learning Outcomes
    The broad objectives of GENE 313 are to:
    - Understand patterns of single-gene inheritance, the molecular basis of various DNA-based polymorphisms, the principles of linkage and the challenges that massively parallel sequencing technology, interpretation of karyotypes, chromosomal abnormalities and "genomic disorders" bring to clinical practice
    - Understand how genetic conditions present clinically; what the clinical issues are and how they are resolved and communicated to families; what the future of genetics is in medicine; the aetiology of complex disease and, in particular, the interplay between genes and environment
    - Be conversant with the design considerations as applied to association analysis, specifically candidate gene approaches and whole-genome screening
    - Understand some of the molecular mechanisms that contribute to the development of cancer, in particular the role of oncogenes and tumour-suppressor genes, and to develop an appreciation of how genetic/molecular information may be used in the development of diagnostics and therapeutics
    - Develop an awareness that epigenetics impacts on disease expression over the human lifespan

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.

Please reference fall and spring course lists as not all courses are taught during both semesters.

Availability of courses is based on enrollment numbers. All students should seek pre-approval for alternate courses in the event of last minute class cancellations

Please note that some courses with locals have recommended prerequisite courses. It is the student's responsibility to consult any recommended prerequisites prior to enrolling in their course.