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  2. Medical Genetics [SCH3223]

School: Medical and Health Sciences

This unit information may be updated and amended immediately prior to semester. To ensure you have the correct outline, please check it again at the beginning of semester.

  • Unit Title

    Medical Genetics

  • Unit Code

    SCH3223

  • Year

    2019

  • Enrolment Period

    1

  • Version

    4

  • Credit Points

    15

  • Full Year Unit

     N

  • Mode of Delivery

    On Campus

  • Unit Coordinator

    Dr Lois Ann BALMER

Description

This unit gives students an appreciation of the achievements and rapid pace of development in medical genetics. It creates a case-based learning environment, linking daily situations in clinical genetics to the complex information available from human molecular genetics. In this way, medical genetics is made simple, attractive and real. Important examples of human genetic disorders are introduced and current strategies for diagnosis, treatment and prevention described. The unit concludes with an analysis of services available for families with genetic disorders.

Prerequisite Rule

Must have passed SCH1133 and SCH2226.

Equivalent Rule

Unit was previously coded {QST0049}

Learning Outcomes

On completion of this unit students should be able to:

  1. Apply knowledge of human genetic disorders in laboratory-based settings.
  2. Communicate with diverse audiences to discuss genetic diseases.
  3. Work in multidisciplinary teams to formulate an understanding of genetic disorders.

Unit Content

  1. Family histories - pedigree interpretation.
  2. Identifying genes for Mendelian disease - the fundamentals of gene mapping.
  3. Gene structure and expression - nucleic acids, transcription translation, and post-translational modification.
  4. Studying patients' DNA - nucleic acid hybridization, PCR amplification.
  5. Mutations - deletion and disruption of genes.
  6. Cancer Genetics - natural selection and the evolution of cancer.
  7. Epigenetics - X inactivation, imprinting, DNA methylation.

Learning Experience

Students will attend on campus classes as well as engage in learning activities through ECU Blackboard.

JoondalupMount LawleySouth West (Bunbury)
Semester 113 x 3 hour seminarNot OfferedNot Offered

For more information see the Semester Timetable

Additional Learning Experience Information

Learning is extensively supported by collaborative case study discussions and analysis. E-learning is enhanced through self-paced quizzes and lecture recordings. Students learn how to function in groups and engage with clients, parents, occupational therapists and carers. Self-reflection activities are included to build ongoing professional competence.

Assessment

GS1 GRADING SCHEMA 1 Used for standard coursework units

Students please note: The marks and grades received by students on assessments may be subject to further moderation. All marks and grades are to be considered provisional until endorsed by the relevant Board of Examiners.

ON CAMPUS
TypeDescriptionValue
ProjectTeamwork Process and Presentation30%
Case StudyIndustry Engagement Case Analysis and Reflection30%
ExaminationTheory Examination40%

Core Reading(s)

  • Read, A., & Donnai, D. (2015). New Clinical Genetics 3. ScionPublishing. Retrieved from http://www.scionpublishing.com/titles/220-9781907904677-new-clinical-genetics
  • Read, A., & Donnai, D. (2011). New clinical genetics . (2nd ed.). Bloxham, UK: Scion Publishing Ltd. Retrieved from https://ecu.on.worldcat.org/oclc/678881771?databaseList=638

Disability Standards for Education (Commonwealth 2005)

For the purposes of considering a request for Reasonable Adjustments under the Disability Standards for Education (Commonwealth 2005), inherent requirements for this subject are articulated in the Unit Description, Learning Outcomes and Assessment Requirements of this entry. The University is dedicated to provide support to those with special requirements. Further details on the support for students with disabilities or medical conditions can be found at the Access and Inclusion website.

Academic Misconduct

Edith Cowan University has firm rules governing academic misconduct and there are substantial penalties that can be applied to students who are found in breach of these rules. Academic misconduct includes, but is not limited to:

  • plagiarism;
  • unauthorised collaboration;
  • cheating in examinations;
  • theft of other students' work;

Additionally, any material submitted for assessment purposes must be work that has not been submitted previously, by any person, for any other unit at ECU or elsewhere.

The ECU rules and policies governing all academic activities, including misconduct, can be accessed through the ECU website.

SCH3223|4|1

School: Medical and Health Sciences

This unit information may be updated and amended immediately prior to semester. To ensure you have the correct outline, please check it again at the beginning of semester.

  • Unit Title

    Medical Genetics

  • Unit Code

    SCH3223

  • Year

    2019

  • Enrolment Period

    2

  • Version

    4

  • Credit Points

    15

  • Full Year Unit

     N

  • Mode of Delivery

    On Campus

  • Unit Coordinator

    Dr Lois Ann BALMER

Description

This unit gives students an appreciation of the achievements and rapid pace of development in medical genetics. It creates a case-based learning environment, linking daily situations in clinical genetics to the complex information available from human molecular genetics. In this way, medical genetics is made simple, attractive and real. Important examples of human genetic disorders are introduced and current strategies for diagnosis, treatment and prevention described. The unit concludes with an analysis of services available for families with genetic disorders.

Prerequisite Rule

Must have passed SCH1133 and SCH2226.

Equivalent Rule

Unit was previously coded {QST0049}

Learning Outcomes

On completion of this unit students should be able to:

  1. Apply knowledge of human genetic disorders in laboratory-based settings.
  2. Communicate with diverse audiences to discuss genetic diseases.
  3. Work in multidisciplinary teams to formulate an understanding of genetic disorders.

Unit Content

  1. Family histories - pedigree interpretation.
  2. Identifying genes for Mendelian disease - the fundamentals of gene mapping.
  3. Gene structure and expression - nucleic acids, transcription translation, and post-translational modification.
  4. Studying patients' DNA - nucleic acid hybridization, PCR amplification.
  5. Mutations - deletion and disruption of genes.
  6. Cancer Genetics - natural selection and the evolution of cancer.
  7. Epigenetics - X inactivation, imprinting, DNA methylation.

Learning Experience

Students will attend on campus classes as well as engage in learning activities through ECU Blackboard.

JoondalupMount LawleySouth West (Bunbury)
Semester 113 x 3 hour seminarNot OfferedNot Offered

For more information see the Semester Timetable

Additional Learning Experience Information

Learning is extensively supported by collaborative case study discussions and analysis. E-learning is enhanced through self-paced quizzes and lecture recordings. Students learn how to function in groups and engage with clients, parents, occupational therapists and carers. Self-reflection activities are included to build ongoing professional competence.

Assessment

GS1 GRADING SCHEMA 1 Used for standard coursework units

Students please note: The marks and grades received by students on assessments may be subject to further moderation. All marks and grades are to be considered provisional until endorsed by the relevant Board of Examiners.

ON CAMPUS
TypeDescriptionValue
ProjectTeamwork Process and Presentation30%
Case StudyIndustry Engagement Case Analysis and Reflection30%
ExaminationTheory Examination40%

Core Reading(s)

  • Read, A., & Donnai, D. (2015). New Clinical Genetics 3. ScionPublishing. Retrieved from http://www.scionpublishing.com/titles/220-9781907904677-new-clinical-genetics
  • Read, A., & Donnai, D. (2011). New clinical genetics . (2nd ed.). Bloxham, UK: Scion Publishing Ltd. Retrieved from https://ecu.on.worldcat.org/oclc/678881771?databaseList=638

Disability Standards for Education (Commonwealth 2005)

For the purposes of considering a request for Reasonable Adjustments under the Disability Standards for Education (Commonwealth 2005), inherent requirements for this subject are articulated in the Unit Description, Learning Outcomes and Assessment Requirements of this entry. The University is dedicated to provide support to those with special requirements. Further details on the support for students with disabilities or medical conditions can be found at the Access and Inclusion website.

Academic Misconduct

Edith Cowan University has firm rules governing academic misconduct and there are substantial penalties that can be applied to students who are found in breach of these rules. Academic misconduct includes, but is not limited to:

  • plagiarism;
  • unauthorised collaboration;
  • cheating in examinations;
  • theft of other students' work;

Additionally, any material submitted for assessment purposes must be work that has not been submitted previously, by any person, for any other unit at ECU or elsewhere.

The ECU rules and policies governing all academic activities, including misconduct, can be accessed through the ECU website.

SCH3223|4|2