module specification

BM7120 - Fundamentals of Medical Genetics and Genomics (2020/21)

Module specification Module approved to run in 2020/21
Module title Fundamentals of Medical Genetics and Genomics
Module level Masters (07)
Credit rating for module 20
School School of Human Sciences
Total study hours 200
160 hours Guided independent study
40 hours Scheduled learning & teaching activities
Assessment components
Type Weighting Qualifying mark Description
Coursework 50%   Practical report (2000 words)
Coursework 50%   Learning Log (2000 words)
Running in 2020/21
Period Campus Day Time Module Leader
Spring semester North Friday Morning

Module summary

Introduction to Genetics and Genomics
This module provides information and guidance to facilitate an indepth understanding and knowledge of the theory and practical applications of molecular biology, genetics and genomics. It explains the underlying mechanisms of molecular biology and enables these ideas to be expanded to the understanding of human health and disease.

Module aims

To provide, thorough in depth study, knowledge and understanding of the theory and practical applications of the underling molecular biology of modern genetics and genomics. This module will investigate both historical and modern approaches to genomics. It will reinforce analytical, evaluative and communication skills. The module will also enable students to research a topical issue in depth and present it at an appropriate level and reflect on the topics studied and their application in biomedical practice.


Review of the basis of molecular biology and genetics.
Study the vast developments in genomes and genetics
Mechanics of DNA replication, transcription and translation.
Genomic technology, DNA in forensics.

Learning and teaching

Students will be guided by staff in their learning using a combination of private study (160 hours), interactive lectures (20 hours), novel investigative practicals (6 hours) and small group tutorials exploring realistic problems/case studies (14 hours). Preparation for assignments (25 h) 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 fundamental material through the completion of 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.

Learning outcomes

On successful completion of this module students will be able to:

  1. Interpret inheritance patterns in human pedigrees and the processes of mutation detection by genomic techniques and explain the consequences of various genomic mutations and polymorphisms in health and disease.
  2. Apply critical thinking to the analysis and solve molecular biological,
    genetic and genomic problems and with an appreciation of current and evolving concepts in genomics specifically through therapeutic and forensic applications.
  3. Understand numerical formulae to assess parameters such as Hardy Weinberg equilibrium; allele frequency; linkage disequilibrium and genetic and physical distance between genomic markers
  4. Recognise, interpret and explain changes in gene structure or expression and in terms of the development of disease phenotype; understand and interpret data generated by modern genomic techniques and analysis
  5. Demonstrate, through completion of quizzes and learning log that students are engaging in and developing their own ongoing learning.

Assessment strategy

The module will be summatively assessed by the completion of a 2000 word practical report on a selected genetic topic (50%, covering learning outcomes  1, 2,4)  and by a learning log (50%, covering learning outcomes  1, 2, 3, 4) portfolio reflecting on current reading and seminars..
Complete weekly quizzes (5)

To pass the module students must achieve a minimum aggregate mark of 50%


Alberts B, Bray D, Lewis J, Raff M, Roberts K, Watson JD. (2003)  Molecular Biology of the Cell 5th Ed. Garland. London.
Brown TA. (1999)  Genetics, a Molecular Approach. 3rd Ed.  Nelson Thornes.
Connor J, Ferguson-Smith M. (1997) Essential Medical Genetics, 4th Ed.  Blackwell.
Griffiths AJF, Wessler SR, Carroll SB, Doebley J. (2011)  Introduction to Genetic Analysis 10th Ed. WH Freeman.
Hartl DL. (2011) Essential Genetics: A Genomics Perspective 5th Ed. Jones and Bartlett.
Jorde LB, Carey JC, Bamshad MJ. (2010)  Medical Genetics 4th Ed. Mosby.
Krebs JE, ST, Goldstein ES: Lewin's Genes XI (2013) CORE
Lewis R (2010) Human Genetics, Concepts and Applications. 9th Ed. McGraw-Hill.
Lesk AM: Introduction to Genomics (2012)
Lodish H, Berk A, Zipursky SL, Matsudaira P, Baltimore D, Darnell J. (2008) Molecular Cell Biology 5th Ed.  WH. Freeman
Read A, Donnai D. (2010) New Clinical Genetics (2nd edit). Scion.
Reed R, Holmes D, Weyers J, Jones A. (2007) Practical Skills in Biomolecular Sciences, 3rd Ed.  Pearson
Ringo J:  Fundamental Genetics (2010)
Ram M: Fundamentals of Cytogenetics and Genetics (2010)
Gibson G, Muse SV. (2009)  A Primer of Genome Science 3rd Ed. Sinauer Associates.
Pevsner J: Bioinformatics and Functional Genomics (2015)
Strachan T, Read A. (2011)  Human Molecular Genetics 4th Ed. Garland Science.
Stachan T, Goodship J, Chinnery P: Genetics and Genomics in Medicine 5th Edition(2014) Garland Science
Sudbery P, Sudbery I. (2009) Human Molecular Genetics 3rd Ed. Pearson.
Young ID. (2010) Medical Genetics 2nd Ed. Oxford University Press.