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2019/20 Taught Postgraduate Module Catalogue

MEDM5111M Human Molecular Genetics

15 creditsClass Size: 35

Module manager: Dr Ian Carr

Taught: Semester 1 (Sep to Jan) View Timetable

Year running 2019/20

Pre-requisite qualifications

As per programme entry qualifications

Module replaces


This module is not approved as an Elective

Module summary

Students will gain knowledge and understanding of human molecular genetics, techniques used in the study of human molecular genetics, the human genome project and relevance to a variety of single gene and complex disorders.


Students will have the opportunity to explore the principles that govern inheritance and the way in which mutations lead to inherited disease. They will acquire an understanding of the basic biology of inheritance and the way that variation at all levels in the genome contributes to the development of inherited disease. They will be able to explore the major categories of genetic disease, and become aware of the areas in which genetic considerations affect clinical decision making. They should understand the principles of major laboratory techniques used in genetics; methods for analysis of chromosomes and genes and their limitations. Be aware of social and ethical issues that arise from the use of genetic information.

Learning outcomes
By the end of this module students will be able to:
- Demonstrate a deep level of knowledge and understanding of basic genetic concepts including DNA structure and gene expression, mutation and DNA repair, chromosome structure and function, cell structure and development and patterns of inheritance;
- Describe the theoretical basis and applications of core molecular genetic techniques including DNA amplification, cloning, nucleic acid hybridization, analysis of DNA and gene structure, variation and expression;
- Assess the impact of the human genome project and relate this to our understanding of the organisation of the human genome;
- Critically appraise recent scientific literature in the field of human molecular genetics and form independent views on areas of uncertainty or conflicting evidence;
- Evaluate the methods used for mapping and identifying the genes involved in Mendelian and complex genetic disorders;
- Comprehend and analyse data from molecular genetic experiments.

Skills outcomes
Knowledge and understanding of human molecular genetics, techniques used in the study of human molecular genetics, the human genome project and relevance to a variety of single gene and complex disorders.


Cell cycle and mitosis, DNA replication, DNA damage and repair, meiosis, recombination, genes in pedigrees, alleles, patterns of inheritance, types of constitutional genetic pathology, genomic architecture, genes in populations, recombinant DNA technology, gene cloning and mapping, genetic markers and linkage analysis, positional cloning, next generation sequencing, applications in clinical diagnosis and forensic medicine, genome projects.

Teaching methods

Delivery typeNumberLength hoursStudent hours
Private study hours117.50
Total Contact hours32.50
Total hours (100hr per 10 credits)150.00

Private study

Students will be expected to augment seminar content with private study, a reading list is provided but in this fast moving field students will be expected to consult the primary literature and expert reviews where these are available. Critical appraisal of primary sources is essential to development of the scientific method and this will provide an opportunity to practise some of the skills acquired in the Core skills modules. 4 hours per seminar = 60 hours
5 tutorials preparation time 2 hours each
2 pieces of assessed written work at 30 hours (literature review) and 20 hours (practical exercise)

Opportunities for Formative Feedback

Students will be required to prepare, present and discuss material at tutorials and they will receive formative feedback from their tutor. Three dry practicals will each involve completion of a practical report. Students will receive feedback on the first of these as a formative exercise - the subsequent two reports will form part of the summative assessment.

Students will be required to prepare and present a poster. They will receive feedback on that formative exercise.

Methods of assessment

Assessment typeNotes% of formal assessment
PracticalProblem solving (short answers)40.00
Literature Review2500 words60.00
Total percentage (Assessment Coursework)100.00

Compensation applies

Reading list

The reading list is available from the Library website

Last updated: 30/04/2019


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