ALLIED HEALTH SCIENCES

FACULTY OF HEALTH AND LIFE SCIENCES

BIOM2001
MOLECULAR GENETICS AND
GENOMICS
2014-15

Module Code:

BIOM2001/2901

Module Title:

Molecular Genetics and Genomics

Module Leader:

Prof. Adrian Slater (AS)

Room H1.18; phone 7843; e-mail: ads@dmu.ac.uk

Lecturer:

Dr Jane Sherwood (JS)

Room H1.18; 'phone: 8262; e-mail: jms@dmu.ac.uk

Lecturer:

Dr Shivanthi Samarasinghe (SS)

Room H1.18; 'phone: 8870; e-mail: nws@dmu.ac.uk

Lecturer:

Dr Tiziana Sgamma (TS)

Room H1.15; phone: 7277; email:

tiziana.sgamma@dmu.ac.uk

The Module
Module characteristics
This module will provide an overview and analysis of molecular genetics and
genomics and builds logically upon the material presented in BIOM1006.
There are two integrated themes in the module, which seek to put genetics
and genomics in the context of human health and genetic disorders.
The genetics dealt with in this module will focus on human genetic
disorders, their diagnosis and available treatments. Inheritance patterns of
single gene disorders will be considered togeher with the complcations often
encountered during pedigree analysis. Multi factorial diseases will be
discussed. The mapping of human genes and population genetics will also
be considered.
The genomics covered in the module will focus on the human genome
project and post-genomic technologies and their application to human
health and disease. The human genome project itself will be discussed, as
will genome-wide expression analysis and proteome analysis. Comparative
and functional genomics will also be considered, as will the application of
bioinformatics to human disease.
The relevence to human health will be made clear, as a part of all lectures
and in dedicated sessions. This part of the module will also complement and
extend the material covered in the genetics part of the module.
Learning objectives
At the end of this module, you should be able to:
1. Explain the techniques associated with genetic analysis and gene
mapping
2. Describe the methodology associated with the human genome project
and genomics

3. Critically describe and discuss the application of molcular genetics and

genomics to human health

Module syllabus
The module broadly falls into two sections: genomics and genetics.
1. Term 1. Genomics
The human genome project
Transcriptomics
Proteomics
Comparative and functional genomics
Bioinformatics
Pharmacogenomics
2. Term 2. Genetics
Inheritance patterns of single gene disorders
The complications encountered during diagnosis of human genetic
disorders
Multifactorial genetic disorders
Population genetics (polymorphisms and gene frequencies)
Identification of new genes reponsible for disease
Gene therapy
Learning and teaching strategies
Information will be transmitted and concepts discussed largely through the
medium of lectures. Tutorials will reinforce and develop the ideas and
concepts introduced in lectures. Some CAL material will be used. Practical
classes will be used to introduce some of the techniques aplicable to
molecular genetics and genomics.
Assessment rationale
Assessment will be by means of a written examination and coursework.
The written examination will take place in the appointed University
examination period after the module has been completed.
Coursework will consist of assignments (written and/or computer based) and
practical reports. These will be assessed during the module.
Deadlines are as follows:
Computer lab reports during the final computer lab in the 1st term.
Practical reports during the final practical class at the end of the 2nd
term.
Practical class schedules will be appended to this module guide and within
these there are indicative accounts and results sections, but please note
that depending on how well the exercises are completed these may well
change; you will be informed of any changes by the lecturer in charge of the
class.
The written examination accounts for 70% of the module mark and
the coursework 30%.

Module learning materials

Recommended texts:
Gibson G and Muse SV. (2009) A Primer of Genome Science. 3rd
edition. Sinauer, Massachusets. ISBN 978-0-87893-236-8

Gibson G. (2015) A Primer of Human Genetics, 1st Edition.

Sinauer, Massachusets. ISBN 978-1-60535-313-5

Read A and Donnai D (2015) New Clinical Genetics, 3rd edition.

Scion Publishing Ltd. ISBN 9781907904677

Other useful texts

Lesk AM. (2012) Introduction to Genomics, 2nd Edition. Oxford University

Press, Oxford. ISBN 978-0-19-956435-4

Strachan T and Read AP (2010). Human Molecular Genetics 4. BIOS. ISBN

1 85996 202 5

Dudley JT and Karczewski KJ (2013). Exploring Personal Genomes. 1st

Edition. Oxford University Press, Oxford. ISBN 978-0-19-964448

Electronic resources
The bookshelf at NCBI (web link above) has a large range of text books
(including many of those listed above) that are freely available and can be
downloaded and printed.
As well as the NCBI site there are several excellent sites that give access,
largely freely, to many peer-reviewed scientific journals. Included amongst
these sites are:

BioMed Central: www.biomedcentral.com

Free Medical Journals: www.freemedicaljournals.com

HighWire Press: highwire.stanford.edu/

Public Library of Science: www.publiclibraryofscience.org

PubMed Central: www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc

Computer laboratories
1

Sequence databases and sequence alignment

Genome browsers

Investigation the alpha globin gene family

Practicals
1

PCR

Restriction Digestion

Gel Electrophoresis

Lectures
Human genomics lectures will be given by Professor Adrian Slater
and Dr Shivanthi Samarasinghe, and will cover the following topics:

The Human Genome: Structure and organisation of the genome;

Sequencing the human genome; The Human Genome Project.

Bioinformatics using computers to store and analyse genomic data

Human genetic variation, SNPs and Genome Wide Association studies

Pharmacogenomics and personalised medicine

Expression of the human genome. Transcription and the control of

gene expression
Packaging the human genome. Epigenomics and long term genetic
regulation

Transcriptomics: Technologies, applications, diagnosis and disease

Proteomics: Technologies, applications, diagnosis and disease

Human genetics lectures will be given by Dr Jane Sherwood and will

cover the following topics:

Human Genetics - An Introduction

Human Genome Structure

Karyotype Analysis and Chromosomal Abnormalities

Pedigree Analysis and Monogenic Disorders (I)

The Complexity of Monogenic Disorders (I)

Population Genetics

Multifactorial Disorders

Genetics and Cancer

Gene Therapy

Genetic Testing