Module Handbook

Module Title:
Medical Genetics and Genomics

Module Code:
BM7122

Module Leader:
Professor Kenneth White
Insert related image here, if appropriate

Session: 2021-22
Teaching period: Semester 2 (Spring)
Pre-requisites: BM7120

Weblearn URL: https://student.londonmet.ac.uk/weblearn/

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Welcome to Medical Genetics and Genomics
Session 2021-22

Module Booklet Contents

1. Teaching team........................................................................................................................... 3
2. Module Summary and Description.................................................................................... 3
Module Learning Outcomes............................................................................................................................ 3
Module Syllabus/Content................................................................................................................................. 4
3. Indicative weekly teaching programme..........................................................................5
4. Attendance and Absence...................................................................................................... 5
5. Academic Integrity and Plagiarism................................................................................... 5
6. Assessment................................................................................................................................ 6
7. Grading criteria......................................................................................................................... 8
8. Module specification............................................................................................................... 8

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1. Teaching team

Details of staff teaching on the module

Office and
Name Role Email
office hours
Module T12-03
Kenneth White [email protected]
leader Thurs 13-14.00
Sarah
Lecturer T12-03 [email protected]
Alokozai
Elliot Kidd Tutor T11-01 [email protected]

Tutor Group Tutor

T1 Elliot Kidd

2. Module Summary and

Description
This module focuses on human diseases with a genetic component, from monogenic
disorders to complex, multifactorial diseases. Consideration is also given to
hereditary mechanisms not linked to DNA sequence (e.g. genomic imprinting).
Semester: Spring (20 credit)

Module Aims
The module aims to provide an appreciation of the genetic basis of inherited
diseases and, wherever possible, relate disease phenotype to mutations in gene
products or to aberrations in gene expression. The material covered emphasises
how an understanding of human biology has advanced through the study of genetic
diseases, explores the development of therapeutic strategies using up-to-date
primary sources and discusses the latest technological innovations.

Module Learning Outcomes

On successful completion of this module students will be able to:
1. Articulate a deep understanding of the genetic basis of a range of diseases and
the complexities of their inheritance patterns;

2. Understand and apply numerical formulae to assess parameters such as Hardy

Weinberg equilibrium, allele frequency, and the heritable risk of monogenic
autosomal and sex linked disorders and of complex diseases;

3. Recognise, interpret and explain to a high level of competency, changes in gene

structure or expression in terms of the development of disease phenotype;

4. Discuss and defend the wide scope of clinical practice in relation to the diagnosis

3
 and treatment of selected genetic diseases;

5. Critically evaluate published cutting-edge medical genetic research and produce

a balanced review of a selected genetic topic using up-to-date primary sources.

The outcomes can be achieved by full engagement with lectures, practical work and
tutorials, together with supporting self-study and recommended reading.

Module Syllabus/Content
Genetic variation in individuals and populations: autosomal dominant and recessive
inheritance; sex-linked and mitochondrial inheritance; complexities of inheritance
patterns.

Epigenetics and the control of gene expression at varying levels.

Clinical cytogenetics: chromosomal basis of syndromic disease.

Clinical aspects of monogenic and multifactorial inheritance: disorders of

metabolism, haemoglobinopathies and other common diseases.

Selected specialist topics including developmental genetics, cancer genetics,

immunogenetics.

3. Indicative weekly teaching programme

Week Teaching events Tutorial Assessments

4
MONDAY 2:00-4:00 pm 4:00-5:00 pm
Introduction to module The
1
Human genome: ENCODE 1. Human Genome  
31st Jan

Developmental Genetics
2
and Epigenetics 2 Epigenetics  
7th Feb

3 The chromosomal basis of 3 Chromosomal Basis

 
14th Feb disease of Disease
Complications of Mendelian
4 4 Mendelian
inheritance  
21st Feb Inheritance

5 5
Haemoglobinopathies
28th Feb Haemoglobinopathies
6
7th March Self-directed Learning  

7 6 Biochemical
 Biochemical genetics
14th March Genetics

8
Practical Session 1
21st March
Component
9
001
28th March Practical Session 2
2000 word
report 50%
10 Multifactorial inheritance of 7
 
4th April common diseases  Multifactorial Disease

Easter Break

11
DNA Repair Genes and Cancer Exam guidance  
25th April

12
Bank Holiday 
2nd May

Component
002
9th May – Exam weeks
2 hour Exam
3rd June See EXAMTRACK for dates
50%

5
The indicative weekly programme shows the topic likely to be covered in each teaching
week, please note that the precise order can change. Check your Weblearn module for up
to date information.

To view the time, date and location of class see your personal timetable available at
https://student.londonmet.ac.uk/timetable

To pass the module you must achieve an overall minimum mark of

50%. If you pass the module on re-assessment, the component you
resit will be capped at a pass mark level of 50%

4. Attendance and Absence

You are required to attend all teaching sessions of this module. If your attendance is
unsatisfactory, the module leader will arrange that you are withdrawn the module.
Before doing this, the hub will email you to inform you of this. If there is a specific
reason why you cannot attend a particular session, you must contact the module
leader in advance of the lecture. If the reason is accepted, it will be noted on the
register as an authorised absence. You will only be granted authorised absence for
three sessions; if the absence is longer you must discuss this further with your
Course leader.

5. Academic Integrity and Plagiarism

Academic integrity requires honesty in your studies. You should not present another
person’s sentences or ideas as your own work. You should clearly identify quotations
through the use of quotation marks and references to the sources. Failure to adhere
to these academic standards may lead to allegations of academic misconduct, which
will be investigated by the Casework Office.

Academic misconduct covers a variety of practices, such as:

 Plagiarism: copying another person’s ideas or words and presenting them as
your own work, without the use of quotation marks and/or references;
 Self-plagiarism: reproducing parts of one of your assignments in another
piece of work;
 Inventing, altering or falsifying the results of experiments or research;
 Commissioning another person to complete an assessment;
 Collaborating with others in the production of a piece of assessed work which
is presented as entirely your own work;
 Cheating in an exam (e.g., by taking revision notes into the exam room).

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For full details of academic misconduct and how allegations are investigated, see the
relevant section of the University’s academic regulations:
https://student.londonmet.ac.uk/your-studies/student-administration/rules-and-
regulations/academic-misconduct/.

6. Assessment

All assessments are designed to support your learning and help you develop a
deeper understanding of the topics covered in your module.

 Formative assessments provide an opportunity to learn and do not contribute

to your grade.
 Summative assessment contribute to your overall mark and grades.

Module Assessments (Summative)

If not pass on aggregate,

Assessment % Week
Description of Item explain what is required
Method weighting Due
to pass the module
Written Report 2000 words 50 9
Exam 2 hours 50 13-15

Module Assessment Cycle

The module assessment cycle shows all assessment related activities of your
module.

Week Activity
Week 01 You will have access to the overall module
assessment plan indicating when formative and
summative assessments are due.
Week 02 You will be informed about summative assignment
details and assessment criteria
Week 04
Week 05
Week 06
Week 07
Week 08

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 Week 09 Assessment 001 - 2000 word written report
Week 10
Week 11
Week 12 You will have the opportunity to discuss the report
feedback in class.
Weeks 13-15 Assessment 002 - Exam

7. Grading criteria

Grade Indicative mark range Code

Pass 50-100 % P
Reassess <50 % R

8. Module specification

Part One: ABOUT THE MODULE

1a Module title Medical Genetics & Genomics
1b Subject Biosciences
1c Location(s) module is offered Holloway
1d Courses Module is available on Core: MSc Cancer Pharmacology, MSc Medical
Genomics
Option: MSc Biomedical Science, MSc Blood Science
2 Module code BM7122
3 Module level and credit rating Level 7 20
4 School SHSC
5 Teaching period Spring Period (15 weeks)
6 Mode of attendance Day
7 Module pre-requisites and co-
requisites
8 Module description
This module focuses on human diseases with a genetic component, from monogenic disorders
to complex, multifactorial diseases. Consideration is also given to hereditary mechanisms not
linked to DNA sequence (e.g. genomic imprinting).
The module aims to provide an appreciation of the genetic basis of inherited diseases and,
wherever possible, relate disease phenotype to mutations in gene products or to aberrations in
gene expression. The material covered emphasises how an understanding of human biology has
advanced through the study of genetic diseases, explores the development of therapeutic
strategies using up-to-date primary sources and discusses the latest technological innovations.

8
9 Module learning outcomes
On successful completion of this module students will be able to:
1. Articulate a deep understanding of the genetic basis of a range of diseases and the
complexities of their inheritance patterns and understand and apply numerical formulae to
assess parameters such as Hardy Weinberg equilibrium, allele frequency, and the heritable risk
of monogenic autosomal and sex linked disorders and of complex diseases;
2. Recognise, interpret and explain to a high level of competency, changes in gene structure or
expression in terms of the development of disease phenotype;
3. Discuss and defend the wide scope of clinical practice in relation to the diagnosis and
treatment of selected genetic diseases and critically evaluate published cutting-edge medical
genetic research and produce a balanced review of a selected genetic topic using up-to-date
primary sources.
10 Indicative syllabus – for full details see section C in Module Booklet
Genetic variation in individuals and populations: autosomal dominant and recessive inheritance;
sex-linked and mitochondrial inheritance; complexities of inheritance patterns.
Epigenetics and the control of gene expression at varying levels.
Clinical cytogenetics: chromosomal basis of syndromic disease.
Clinical aspects of monogenic and multifactorial inheritance: disorders of metabolism,
haemoglobinopathies and other common diseases.
Selected specialist topics including developmental genetics, cancer genetics, immunogenetics.
the exploration of different approaches to ethical issues in scientific research and practice and
introduce students to professional ethics and codes of conduct in the human sciences.
The study of genetic factors associated with infectious disease (LO1-3)
11 Indicative bibliography and key on-line resources

https://londonmet.rl.talis.com/index.html?lang=en

Journals:
Human Molecular Genetics, Nature Genetics, Nature Reviews Genetics, Trends in Genetics

12 What is the balance of independent study and scheduled teaching activity within the module ?

Students will be guided in their learning using a combination of private study, interactive lectures,
investigative practicals and small group tutorials exploring realistic problems/case studies.
Preparation for assignments will enable students to reinforce and expand their knowledge base
and develop subject skills and competences. They will be able to assess and reflect upon their
understanding of the material through the completion on-line quizzes.
On completion of this module students’ provide an evaluation of how the module enabled them
to develop skills such as information technology, organisational skills, team building,
communication time management, and working under pressure
NOTE: 1 credit = 10 hours’ learning (i.e. 30 credits should total 300 hours)
Method Description Learning hours
Scheduled Learning & Teaching Lectures, tutorials, practicals 39
and on-line exercises

Guided independent study Weblearn tasks & study 137

Assessment preparation/delivery 24
Placement/study abroad

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 TOTAL LEARNING HOURS FOR THE MODULE 200
13a Description of assessment items.

The module will be summatively assessed by the completion of a 2000 word report on a selected
genetic topic (50%) and by an end of module test (50%) (1.5 hours) comprising short answer
questions.
To pass the module students must achieve a minimum aggregate mark of 50%

Component Marks Learning outcomes

report 50% 2,3
written exam 50% 1,3

13b Description of assessment Assessment Qualifying Qualifying Week Learning

component weighting marks and sets due outcome/s
conditions
coursework Report 50% 9 2,3
(2000
words)
written Exam (1.5 50% 13-15 1,3
exam hour)

Part Two: SCHOOL USE

1 Nominated External Examiner Dr Andrew Tsolaki
4
1 Nominated Module Leader at time of Prof Kenneth White
5 approval

Part Three: OFFICIAL USE AND CODES – responsibility for completion is as

indicated
1 Original date of validation (AQD) Please enter the validation date.
6
1 Revision date (specify cohort) (AQD) Please note date of any modifications.
7
1 Module specification version number Please input the version number.
8 (AQD)
1 SITS Mark Scheme (Student Journey) Please input the SITS mark scheme.
9
2 Subject Standards Board Name (Student Please input the SSB name.
0 Journey)

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