MSc Molecular Pathology / Course details

Year of entry: 2021

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Course unit details:
Genetics, Genetic Epidemiology, Transcriptomics and Functional Genomics

Unit code BIOL72021
Credit rating 15
Unit level FHEQ level 7 – master's degree or fourth year of an integrated master's degree
Teaching period(s) Semester 1
Offered by School of Biological Sciences
Available as a free choice unit? No


This 15 credit Unit is broadly structured into two parts.

The first part of this Unit introduces students to the theoretical and practical skills and knowledge required to evaluate the contribution of genetic variation to human health and disease. The human genome comprises millions of nucleotides of genetic variation. Understanding genetic variation and its potential impact on human health and susceptibility to disease is essential for developing effective preventative or therapeutic treatment strategies to improve quality of life, for use in precision and stratified medicine, and may provide useful diagnostic biomarkers.

The second part of this Unit aims to provide an understanding of the relationship between transcriptomics and functional genomics with life processes, the importance of measurements in these research fields, and the influence of data gathering process on data analysis. An appreciation of innovation and commercialization in the biotech industry will also be developed. Students will gain a basis for designing experiments to optimise the retrieval of data relating to gene regulation and how future technologies aim to improve the resolution of data to better permit quantitative measurement of gene activity.

This Unit is delivered using a combination of lectures, seminars, computer workshops and a laboratory tour.


The aims of this Unit are to provide students with theoretical knowledge and understanding of the scientific fields of genetics, transcriptomics and functional genomics, the use of computational and data analysis strategies to interrogate genetic and genomic datasets, and how these fields relate to human health and disease.

Learning outcomes

This Unit comprises lectures/tutorials, computer workshops, a laboratory tour totalling ~30 hours of teaching.

The teaching and learning content cover the basis of genomic structure and variation, experimental methods available to measure this variation, methods to assess the potential contribution of genetic variation to human health and disease susceptibility and how this variation may give rise to differing responses to therapeutic treatment. This unit also covers how transcription works in the control of cell activity, how measurements can be made in the laboratory using different types of established and emerging techniques and methods to identify dysregulated transcripts associated with pathogenesis. Speakers have been invited from the private sector to discuss how innovation can lead to a commercial enterprise and the inter-relationship between industry and academia.

Teaching and learning methods

This Unit is delivered using a combination of lectures, seminars, computer workshops and a laboratory tour. Lectures are delivered by individuals from the academic, clinical and commercial sectors, including discussion of how innovation can lead to a commercial enterprise and the inter-relationship between industry and academia.

The genetics component comprises approximately 12 hours of face-to-face lectures/ seminars and two computational workshops (a total of 17 hours) using online resources for interrogation of genetic data, genetic study design and statistical analysis.

The transcriptomics and functional genomics component comprises eight lectures totalling nine hours. A two-hour workshop may be included to allow students to manipulate genomics data.

All lectures are supported with examples of online electronic resources and/or 2-3 key references.

Students are also provided with a formative MCQ and short-answer series of questions for self-directed learning. Students work both independently and in groups of 3-4 towards the group oral presentation, held approximately 10 days after module delivery. These group presentations provide further contact time and opportunities for learning and formative feedback.

Knowledge and understanding

Students will understand or have some knowledge of:

i) the basis of genomic structure and variation

ii) the different experimental and analytical methods to measure genetic variation and assess its potential contribution to the molecular basis of human disease

iii) how genetic variation may provide useful diagnostic markers and give rise to differing responses to drug treatment

iv) the role of transcription in the control of cell activity

v) the importance of measurements in transcriptomics and functional genomics

vi) the influence of experimental design and the data gathering process on analysis of gene regulation data

vii) the role of new and emerging technologies in measurement of gene activity

viii) innovation and commercialization in transcriptomics and functional genomics in the biotechnology industry

Intellectual skills

Students will be able to:

i) objectively analyse and critically interpret data relating to genetics, transcriptomics and functional genomics

ii) understand and be able to critically evaluate experimental and in silico methodologies relating to genetics, transcriptomics and functional genomics

iii) recognise, define and formulate questions in relation to the use of genetic and genomic techniques to define human health and disease


Practical skills

Students will be able to:

i) carry out focussed searches to identify, retrieve and manage key literature relevant to a particular topic

ii) critically appraise the literature

iii) use in silico resources or tools to retrieve, manipulate and analyse genetics and genomics data

iv) communicate ideas and results of analyses in a clear, concise and effective manner.

Transferable skills and personal qualities

Students will be able to:

i) demonstrate effective oral and written communication skills

ii) set priorities and manage time effectively

iii) demonstrate capacity for self-directed learning and independent thinking and to utilise problem solving skills.

Assessment methods

Method Weight
Written assignment (inc essay) 60%
Oral assessment/presentation 40%

Feedback methods

Marks and comprehensive written feedback is provided to students on all written and oral assessments, including feedback on what was done well and what could be improved in order to achieve the next grade.

An electronic or written survey is use to gather feedback from the students on the course unit, in addition to surveys distributed centrally

Recommended reading

Unit 3, Genetics & Genomics


National Human Genome Research Institute (NHGRI), Education pages

•       Fact sheets

•       About Genomics


Journal Articles (some restricted access)

Essentials of Genomic and Personalized Medicine, 2010

Edited by: Geoffrey S. Ginsburg, M.D., Ph.D., and Huntington F. Willard, Ph.D.

ISBN: 978-0-12-374934-5

Nature Reviews Genetics ‘Collections’

•       Clinical Applications of Next Generation Sequencing

•       Translational Genetics

•       Disease Mechanisms

Nature. 2011 (470):187-97 | doi:10.1038/nature09792. Initial impact of the sequencing of the human genome.

Sci Transl Med. 2012; (4) 54ra135 | DOI: 10.1126/scitranslmed.3004041

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units



Genetics and Genomics in Medicine

Author(s):Tom Strachan, Judith Goodship, Patrick Chinnery ISBN: 9780815344803

Date: June 01, 2014, 1st edition

Study hours

Independent study hours
Independent study 150

Teaching staff

Staff member Role
Philip Day Unit coordinator
Janine Lamb Unit coordinator

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