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GENE313 Medical Genetics

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 characterised 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, medical bioinformatics, DNA sequence analysis, association analysis and characterisation of epigenetic anomalies.

Paper title Medical Genetics
Paper code GENE313
Subject Genetics
EFTS 0.1500
Points 18 points
Teaching period Second Semester
Domestic Tuition Fees (NZD) $1,018.05
International Tuition Fees (NZD) $4,500.00

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Prerequisite
GENE 221, GENE 222, GENE 223
Schedule C
Science
Notes
In approved cases, another 200-level biological sciences paper may be substituted for one of GENE 221-223.
Eligibility
Appropriate for students majoring in genetics, other biological and health sciences and molecular biotechnology.
Contact
stephen.robertson@otago.ac.nz
Paper Structure
The lecture course is divided into five themes:
  • Pedigrees analysis
  • Chromosomal analysis and Molecular karyotyping
  • Mutations and disease
  • Next generation sequencing and its application to medicine
  • 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.
Teaching staff
Convenor: Professor Stephen Robertson (Department of Pathology)
Other teaching staff: Dr David Markie (Department of Pathology), Dr Anita Dunbier (Department of Biochemistry), Professor Tony Merriman (Department of Biochemistry), Professor Ian Morison(Department of Pathology) and Dr Gillian Mackay (Genetics Programme)
Teaching Arrangements
All labs are held in Room G09, Biochemistry building.
Textbooks
Text books are not required for this paper.

Two books that might be helpful are:
Human Molecular Genetics. T. Strachan and A.P. Read. 4th edn, New York; Wiley 2010.
New Clinical Genetics 3rd edition, Andrew Read and Dian Donnai

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
Course outline
View the information sheet for GENE 313
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 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

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Timetable

Second Semester

Location
Dunedin
Teaching method
This paper is taught On Campus
Learning management system
Blackboard

Lecture

Stream Days Times Weeks
Attend
L1 Monday 09:00-09:50 28-34, 36-41
Tuesday 09:00-09:50 28-34, 36-41

Practical

Stream Days Times Weeks
Attend one stream from
P1 Monday 14:00-17:50 34, 36-41
Tuesday 14:00-17:50 34, 36-41
P2 Thursday 14:00-17:50 34, 36-41
Friday 14:00-17:50 34, 36-41

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 characterised 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, medical bioinformatics, DNA sequence analysis, association analysis and characterisation of epigenetic anomalies.

Paper title Medical Genetics
Paper code GENE313
Subject Genetics
EFTS 0.1500
Points 18 points
Teaching period Second Semester
Domestic Tuition Fees Tuition Fees for 2018 have not yet been set
International Tuition Fees Tuition Fees for international students are elsewhere on this website.

^ Top of page

Prerequisite
GENE 221, GENE 222, GENE 223
Schedule C
Science
Notes
i) In approved cases, another 200-level biological sciences paper may be substituted for one of GENE 221-223. (ii) This paper includes additional non-streamed lab time that does not appear in the timetable. Please contact the department for further details.
Eligibility
Appropriate for students majoring in genetics, other biological and health sciences and molecular biotechnology.
Contact
stephen.robertson@otago.ac.nz
Teaching staff
Convenor: Professor Stephen Robertson (Department of Pathology)
Other teaching staff: Dr David Markie (Department of Pathology), Dr Anita Dunbier (Department of Biochemistry), Professor Tony Merriman (Department of Biochemistry), Professor Ian Morison(Department of Pathology) and Dr Gillian Mackay (Genetics Programme)
Paper Structure
The lecture course is divided into five themes:
  • Pedigrees analysis
  • Chromosomal analysis and Molecular karyotyping
  • Mutations and disease
  • Next generation sequencing and its application to medicine
  • 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.
Teaching Arrangements
All labs are held in Room G09, Biochemistry building.
Textbooks
Text books are not required for this paper.

Two books that might be helpful are:
Human Molecular Genetics. T. Strachan and A.P. Read. 4th edn, New York; Wiley 2010.
New Clinical Genetics 3rd edition, Andrew Read and Dian Donnai

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
Course outline
View the information sheet for GENE 313
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 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

^ Top of page

Timetable

Second Semester

Location
Dunedin
Teaching method
This paper is taught On Campus
Learning management system
Blackboard

Lecture

Stream Days Times Weeks
Attend
L1 Monday 09:00-09:50 28-34, 36-41
Tuesday 09:00-09:50 28-34, 36-41

Practical

Stream Days Times Weeks
Attend one stream from
P1 Monday 14:00-17:50 34, 36-41
Tuesday 14:00-17:50 34, 36-41
P2 Thursday 14:00-17:50 34, 36-41
Friday 14:00-17:50 34, 36-41