GEN3051 Unit Guide PDF

Preview

Summary

Unit Guide...

Description

                 



Unit Guide 

GEN3051 Medical and forensic genetics Semester 1, 2018     Handbook link: http://monash.edu.au/pubs/2018handbooks/units/GEN3051.html  

1

Table of contents Unit handbook information

4

Synopsis

4

Mode of delivery

4

Workload requirements

4

Unit relationships

4

Prerequisites

4

Prohibitions

4

Co-requisites

4

Chief Examiner(s)

4

Unit Coordinator(s)

4

Other staff details

5

Academic overview Learning outcomes

5 5

Teaching approach

5

Feedback to you

6

Assessment summary

6

Assessment requirements Assessment tasks

8 8

Examination(s)

10

Applications for special consideration

10

Assignment submission

10

Unit schedule Your feedback to us Previous student evaluations of this unit Unit resources

12 14 14 15

Learning resources

15

Required resources

15

Recommended resources

15

Technologyrequirements

16

Examination material or equipment Other information

16 16

Policies

16

Special Consideration

16

Graduate Attributes Policy

16

Student Charter

17

2

Student Services

17

Monash University Library

17

Disability Support Services

17

Plagiarism, cheating and collusion

17

Extensions and penalties

17

Other unit information

18

3

Unit handbook information Synopsis The study of genetics and its applications to medicine and forensic biology including genetic disorders, genetic screening and DNA profiling. Topics include cytogenetics, immunogenetics, genetic counselling and gene therapy. The impact and ethics of recent genetic advances on both the individual and society will be discussed. The unit will focus on current techniques in DNA testing both in medical diagnosis and forensic biology. Practical sessions will involve an analysis of human chromosomes and aspects of genetic counselling.

Mode of delivery Malaysia (On-campus) Clayton (On-campus)

Workload requirements ● ●

Two 1-hour lectures and one 1-hour lecture/tutorial session per week over 12 weeks One 3-hour practical session per week over 8-9 weeks

Unit relationships 

Prerequisites GEN2041 or BMS2042, MCB2011 or MOL2011

Prohibitions None

Co-requisites None

Chief Examiner(s) Dr Robert Bryson-Richardson

Unit Coordinator(s) Dr Robert Bryson-Richardson (Clayton) Professor Sadequr Rahman (Malaysia)

4

Other staff details Chief Examiner

Dr Robert Bryson-Richardson

Unit Coordinator

Dr Robert Bryson-Richardson

Campus:

Clayton

Phone:

+61 3 990 24629

Email:

[email protected]

Office hours:

By appointment

Campus Coordinator

Prof Sadequr Rahman

Campus:

Malaysia

Phone:

+60 3 5514 6083

Email:

[email protected]

Office Hours:

9.00am – 5.00pm

Academic overview Learning outcomes On completion of this unit students will be able to: 1. Explain the application of modern genetic techniques such as gene mapping, genomewide association studies and individual genome-sequencing to: i) the characterisation , diagnosis and treatment of simple and complex human diseases; and ii) the identification of individuals and relationships between individuals by forensic genetics; 2. Describe how variations in the DNA sequence of a gene can result in changes in gene function that ultimately lead to disease symptoms and explain how improved understanding of this molecular pathology can aid in the treatment of disease, and illustrate the value of model organisms in investigating the molecular pathology of human diseases; 3. Appraise ethical issues affecting both the individual and society raised by advances in human genetics; 4. Demonstrate high-level skills in data collection, analysis, interpretation and presentation, and apply these in written scientific reports and oral presentations; 5. Apply advanced problem-solving skills to issues of medical and forensic genetics; 6. Critically evaluate and summarise new discoveries from the scientific literature in medical and forensic genetics.

Teaching approach Lectures will be used to deliver the formal unit content. Occasional guest lectures will enhance this

5

content, exposing students to real-world examples from professionals in the fields of medical genetics, forensics and medical ethics. Laboratory-based classes will complement the lectures. Students will carry out molecular genetic experimental techniques to gain laboratory skills and practical experience in human genotyping. Short tutorials will be held during these classes to further explain detailed technical concepts. Students will be required to critically evaluate scientific papers and present their findings in both written form and in oral presentations to develop analytical, writing and speaking skills and broaden their knowledge base in medical genetics. Problem sets will be used to test and develop students’ understanding of key genetic concepts. 

Feedback to you Immediate verbal feedback from lecturers and demonstrators will be available during each laboratory class to assist students with solving problem sets, carrying out experiments and interpreting experimental results. Written feedback will be supplied to each student for each assessment task within three weeks of the hand-in date for that task. Lecturers will be available for additional verbal feedback on assessment tasks during laboratory class, or outside of laboratory hours by appointment. Where appropriate, general feedback will be given verbally to the whole class as well. A staff-student liaison committee, formed from volunteer student representatives and the teaching academics, will meet informally towards the end of semester to discuss the unit’s strengths and weaknesses and suggest improvements for the future. 

Assessment summary Examination (2 hours): 60% Mid-semester test: 10% Oral presentation, practical reports and genetics problem-solving exercises: 30% Assessment task

Value

Due date

Practical 1 News and Views Article

10%

Thursday Class 11.55pm March 26, Friday Class 11.55pm March 27

Oral Presentations

10%

Thursday class presentations due week 6, to be submitted electronically on the 11/04/18 by 11.55pm or, week 7 to be submitted electronically on the 18/04/18 by 11.55pm. Friday class presentations due week 6, to be submitted electronically on the 12/04/18 by 11.55 pm or, week 7 to be submitted electronically on the 19/04/18 by 11.55 pm.

Mid – semester test

10%

Monday April 23rd at 4pm

6

Assessment task

Value

Due date

Practical 2 Cystic Fibrosis Report

7.5%

Monday May 21st at 11.55pm

Practical 3 Forensic Genetics Report

2.5%

Thursday class is due on the 24/05/18 at 5.00pm Friday class is due on the 25/05/18 at 1.00pm

End of Semester Exam

60%

To be advised

7

Assessment requirements Assessment tasks Assessment title: Practical 1 - News and Views Article Details of task: A popular science-style written review of a given scientific paper describing the mapping and/or identification of a human disease gene is to be submitted Value: 10% Due date: Thursday Class 11.55pm March 26, Friday Class 11.55pm March 27 Estimated return date: 3 weeks from submission Topic release date: Not applicable Presentation requirements: Not applicable Word limit: 800 Individual assessment in group tasks: Not applicable Hurdle requirements: Not applicable Additional information: Not applicable Criteria for marking: A marking rubric is provided, together with the full instructions, in the practical manual. Assessment title: Oral Presentations Details of task: A ten minute oral presentation to other class members on an allocated human genetic disease. Value: 10% Due date: Thursday class presentations due week 6, to be submitted electronically on the 11/04/18 by 11.55pm or, week 7 to be submitted electronically on the 18/04/18 by 11.55pm. Friday class presentations due week 6, to be submitted electronically on the 12/04 /18 by 11.55pm or, week 7 to be submitted electronically on the 19/04/18 by 11.55pm. Estimated return date: 3 weeks from submission Topic release date: Not applicable Presentation requirements: Powerpoint slides, including an electronic copy to submitted electronically by 11.55pm on the day preceding your presentation Word limit: Not applicable Individual assessment in group tasks: Not applicable Hurdle requirements: Not applicable Additional information: Not applicable Criteria for marking: A marking rubric is provided, together with the full instructions, in the practical manual. Assessment title: Mid –semester test Details of task: A 50 minute test under examination conditions consisting of multiple-choice questions. Those with surnames starting with A-L to go to 21Col/E3 (normal lecture theatre) and those with surnames L-Z to go to lecture theatre 20Chn/H1. This test will cover

8 GEN3051 Medical and forensic genetics - Semester 1 (S1-01) - 2018

all the lecture material up to and including lecture 11 (April 09). Please arrive promptly as the test will start at 4pm. Value: 10% Due date: Monday April 23rd at 4pm Estimated return date: 2 weeks from test date Topic release date: Not applicable Presentation requirements: Not applicable Word limit: Not applicable Individual assessment in group tasks: Not applicable Hurdle requirements: Not applicable Additional information: Not applicable Criteria for marking: An example feedback sheet will be provided Assessment title: Practical 2 - Cystic Fibrosis Report Details of task: A detailed analysis of the experimental results from the cystic fibrosis genotyping practical exercise, together with answers to related problem set questions, is to be submitted via a Moodle Quiz Value: 7.5% Due date: Monday May 21st at 11.55pm Estimated return date: 3 weeks from submission Topic release date: Not applicable Presentation requirements: Not applicable Word limit: Not applicable Individual assessment in group tasks: Not applicable Hurdle requirements: Not applicable Additional information: Not applicable Criteria for marking: An example feedback sheet will be provided Assessment title:  Practical 3 - Forensic Genetics Report Details of task: A series of problems relating to forensic genetics will be made available via Moodle during laboratory class. Value: 2.5% Due date: Thursday class is due on the 24/05/18 at 5.00pm Friday class is due on the 25/05/18 at 1.00pm Estimated return date: 1 week from submission Topic release date: Not applicable Presentation requirements: Not applicable Word limit: Not applicable Individual assessment in group tasks: Not applicable Hurdle requirements: Not applicable Additional information: Not applicable Criteria for marking: An example feedback sheet will be provided

9 GEN3051 Medical and forensic genetics - Semester 1 (S1-01) - 2018

Examination(s) Title: End of Semester Exam Value: 60% Duration: 2 hours Electronic devices allowed: No Exam details: A written exam consisting of multiple choice questions, short answer questions and long answer questions 

Applications for special consideration Approval for extensions will only be granted if the student can provide evidence of extenuating circumstances beyond their control (e.g. illness). If you need to apply for special consideration, download this form http://www.monash.edu.au /connect/assets/docs/forms/in-semester.pdf  and submit it along with the supporting documentation to thespecial consideration drop box on the GEN3051 Moodle homepage within forty eight hours of the deadline, and, if appropriate reasons are documented, an extension will be granted. If the report is late, 10% of the maximum mark will be subtracted from the mark obtained for each day or part thereof by which it was late. No assignment can be accepted for assessment more than a week after the due date except in exceptional circumstances and in consultation with the Unit Coordinator.

Assignment submission Online Submission: Log into Moodle and select the unit for which you wish to submit work. You will be required to complete a Plagiarism and Cheating statement before your assignment is submitted to the drop box. It is essential you adhere to the following format for the naming of the file you wish to submit:

● ●

it must contain your Authcate name; and there must be no space in the filename.

You must click on ‘submit’ and accept the plagiarism statement for your assignment to be submitted successfully. You will receive a confirmation email once you have successfully submitted your assignment to the Moodle dropbox. Please check that you have received the email. Assignments that are not submitted correctly by the due date may have marks deducted as a late penalty.

10

Comments and grading of your assessment will be communicated to you either by Moodle, or during practical classes.

Instructions for submitting an assignment electronically using Moodle can be found in the Moodle assignment dropbox or http://www.vle.monash.edu/faqs/faqvlestudent/faq-moodle.html Please keep a copy of completed tasks for your records.

11

Unit schedule For units with on-campus classes, teaching activities are normally scheduled to start on the hour (teaching will commence on the hour and conclude 10 minutes prior to the scheduled end time). The table below shows the planned schedule of activities and assessment for this unit but from time to time it may be necessary to adjust this for operational reasons. Please listen for announcements in lectures and/or check official announcements on Moodle regularly. LECTURE SCHEDULE 2018 Week

Lecture

Date

Time/Place

Topic

Lecturer

1

1

Mon Feb 26

4 pm 21Col/E3

Overview of genetic disorders

RBR

2

Thu Mar 01

9 am 21Col/E3

Segregation and linkage analysis – single gene diseases

RBR

3

Mon Mar 05

4 pm 21Col/E3

Identifying human disease genes

RBR

4

Thu Mar 08

9 am 21Col/E3

Gene discovery and diagnostics by high throughput sequencing

RBR

5

Mon Mar 12

4 pm 21Col/E3

Human mutation and mol. pathology

RBR

6

Thu Mar 15

9 am 21Col/E3

Animal models in human genetics

RBR

7

Mon Mar 19

4 pm 21Col/E3

Advances in genetic screening

RBR

8

Thu Mar 22

9 am 21Col/E3

Genetic treatment of disease

RBR

9

Mon Mar 26

4 pm 21Col/E3

Stem cells

RBR

10

Thu Mar 29

9 am 21Col/E3

Genetic counselling

MD

2

3

4

5

Mid-semester break

Mar 30April 06 6

7

11

Mon Apr 09

4 pm 21Col/E3

Complex disease gene identification

RBR

12

Thu Apr 12

9 am 21Col/E3

Ethics

RS

13

Mon Apr 16

4 pm 21Col/E3

Genetic basis of antibiotic resistance

JB

14

Thu Apr 19

9 am 21Col/E3

Cystic Fibrosis

JB

12

Mon Apr 23

4 pm 21Col/E3

Mid sem test

RBR

15

Thu Apr 26

9 am 21Col/E3

Bacteriophage genetics

JB

16

Mon Apr 30

4 pm 21Col/E3

CRISPR technologies

JB

17

Thu May 03

9 am 21Col/E3

Epigenetics and disease

RB

18

Mon May 07

4 pm 21Col/E3

Forensic genetics I

RB

19

Thu May 10

9 am 21Col/E3

Forensic genetics II

RB

20

Mon May 14

4 pm 21Col/E3

Forensic genetics III

RB

21

Thu May 17

9 am 21Col/E3

Forensic genetics applications

PS

22

Mon May 21

4 pm 21Col/E3

Forensic genetics IV

RB

23

Thu May 24

9 am 21Col/E3

Revision

RBR/RB /JB

8

9

10

11

12

RB: Dr Richard Burke   RBR: Dr. Robert Bryson-Richardson JB: Dr Jeremy Barr RS: Dr. Robert Sparrow MD: Prof Martin Delatycki PS: Dr. Peta Stringer

PRACTICAL SCHEDULE 2018

Week

Date

Time

1

Thu Mar 01 Fri Mar 02

2 - 5pm 10 -1pm

2

Thu Mar 8 Fri Mar 9

2 - 5 pm 10 - 1 pm

RBR

Identification of Disease Genes I

3

Thu Mar 15 Fri Mar 16

2 - 5 pm 10 - 1 pm

RBR

Identification of Disease Genes II (10%)

4

Thu Mar 22 Fri Mar 23

2 - 5 pm 10 - 1 pm

No Prac

5

Thu Mar 29 Fri Mar 30

2 - 5 pm 10 - 1 pm

No Prac

Fri 30 March – 6 April

Lecturer

Topic

Hand in date

No Prac

th

March 26 , 11.55 pm March 27 th, 11.55 pm

Mid-semester Break

13

6

Thu Apr 12 Fri Apr 13

2 - 5 pm 10 - 1 pm

RBR/RB/TS /TJ

Oral Presentations (10%)

April 11 th, 11.55 pm April 12 st, 11.55 pm

7

Thu Apr 19 Fri Apr 20

2 - 5 pm 10 - 1 pm

JB/RBR/RB /TS/TJ

Oral Presentations (10%)

April 18 th, 11.55 pm April 19 st, 11.55 pm

8

Thu Apr 26 Fri Apr 27

2 - 5 pm 10 - 1 pm

JB

Cystic Fibrosis I

9

Thu May 03 Fri May 04

2 - 5 pm 10 - 1 pm

JB

Cysti...