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

    2017
  • Enrolment Period

    1
  • Version

    2
  • 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 an (I/W) unit in {SCH1133}

Equivalent Rule

Unit was previously coded {QST0049}

Learning Outcomes

On completion of this unit students should be able to:

  1. List the principal clinical characteristics of representative genetic disorders.
  2. Analyse the molecular basis of genetic disorders and genotype-phenotype correlations.
  3. Explain the inheritance of the major categories of genetic disorders and factors complicating patterns of inheritance.
  4. Analyse the ethical, legal and social issues in medical genetics.
  5. Evaluate the current strategies in genetic screening and the prevention of genetic disease, including genetic counselling.

Unit Content

  1. Family histories - the art of pedigree interpretation.
  2. Identifying genes for Mendelian disease - the fundamentals of gene mapping, special problems of gene mapping in humans, testing candidate genes for mutations.
  3. Gene structure and expression - nucleic acids, transcription, exons and introns, splicing, translation, the genetic code, post-translational modification.
  4. Patients' chromosomes - numerical and structural abnormalities.
  5. Studying Patients' DNA - nucleic acid hybridization, PCR amplification, detecting balanced abnormalities, chromosome painting, making cDNA.
  6. Mutations - deletion and disruption of genes, mutations affecting transcription, splicing and translation, loss of function and gain of function changes.
  7. Identifying disease-causing mutations - DNA sequencing, methods for detecting specific sequence changes.
  8. Cancer Genetics - natural selection and the evolution of cancer, the importance of telomeres, oncogenes, function and activation of oncogenes, tumour suppressor genes, proving Knudson's two-hit hypothesis, apoptosis, epigenetics of cancer, whole genome studies and somatic changes in tumour genomes.
  9. Epigenetics - X inactivation, imprinting, DNA methylation, imprinting related disorders, the purpose of imprinting.
  10. Services available for families with genetic disorders - the importance of diagnosis, risk assessment and genetic counselling, genetic testing, genetic and cellular treatment of genetic disorders.

Additional Learning Experience Information

Lectures, with industry-based guest lecturers, and tutorials. Total unit time is 3 hours per week. In tutorials, students will work in designated teams, preferably comprising diverse cultural perspectives, to discuss genetic disorders case studies. Each group will prepare and deliver a power point presentation on their findings to the class. Students will also work in pairs as volunteers for Genetic Disability Support Groups, to develop a better understanding of the nature and implications of genetic disorders.

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
TestMid semester test20%
Case StudyConduct an in-depth analysis of a selected genetic disorder20%
PracticumAs a volunteer for a genetic disorder support group or do a 30 min presentation on a support group a20%
ExaminationTheory examination40%

Core Reading(s)

  • Read, A., & Donnai, D. (2011). New clinical genetics . (2nd ed.). Bloxham, UK: Scion Publishing Ltd.

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|2|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

    2017
  • Enrolment Period

    2
  • Version

    2
  • 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 an (I/W) unit in {SCH1133}

Equivalent Rule

Unit was previously coded {QST0049}

Learning Outcomes

On completion of this unit students should be able to:

  1. List the principal clinical characteristics of representative genetic disorders.
  2. Analyse the molecular basis of genetic disorders and genotype-phenotype correlations.
  3. Explain the inheritance of the major categories of genetic disorders and factors complicating patterns of inheritance.
  4. Analyse the ethical, legal and social issues in medical genetics.
  5. Evaluate the current strategies in genetic screening and the prevention of genetic disease, including genetic counselling.

Unit Content

  1. Family histories - the art of pedigree interpretation.
  2. Identifying genes for Mendelian disease - the fundamentals of gene mapping, special problems of gene mapping in humans, testing candidate genes for mutations.
  3. Gene structure and expression - nucleic acids, transcription, exons and introns, splicing, translation, the genetic code, post-translational modification.
  4. Patients' chromosomes - numerical and structural abnormalities.
  5. Studying Patients' DNA - nucleic acid hybridization, PCR amplification, detecting balanced abnormalities, chromosome painting, making cDNA.
  6. Mutations - deletion and disruption of genes, mutations affecting transcription, splicing and translation, loss of function and gain of function changes.
  7. Identifying disease-causing mutations - DNA sequencing, methods for detecting specific sequence changes.
  8. Cancer Genetics - natural selection and the evolution of cancer, the importance of telomeres, oncogenes, function and activation of oncogenes, tumour suppressor genes, proving Knudson's two-hit hypothesis, apoptosis, epigenetics of cancer, whole genome studies and somatic changes in tumour genomes.
  9. Epigenetics - X inactivation, imprinting, DNA methylation, imprinting related disorders, the purpose of imprinting.
  10. Services available for families with genetic disorders - the importance of diagnosis, risk assessment and genetic counselling, genetic testing, genetic and cellular treatment of genetic disorders.

Additional Learning Experience Information

Lectures, with industry-based guest lecturers, and tutorials. Total unit time is 3 hours per week. In tutorials, students will work in designated teams, preferably comprising diverse cultural perspectives, to discuss genetic disorders case studies. Each group will prepare and deliver a power point presentation on their findings to the class. Students will also work in pairs as volunteers for Genetic Disability Support Groups, to develop a better understanding of the nature and implications of genetic disorders.

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
TestMid semester test20%
Case StudyConduct an in-depth analysis of a selected genetic disorder20%
PracticumAs a volunteer for a genetic disorder support group or do a 30 min presentation on a support group a20%
ExaminationTheory examination40%

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|2|2