module specification

BM7120 - Fundamentals of Medical Genetics and Genomics (2024/25)

Module specification Module approved to run in 2024/25
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
24 hours Assessment Preparation / Delivery
137 hours Guided independent study
39 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 2024/25

(Please note that module timeslots are subject to change)
Period Campus Day Time Module Leader
Spring semester North Tuesday Morning

Module summary

This module provides information and guidance to faciliatate 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.
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.
enable 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 (LO1-3)

Balance of independent study and scheduled teaching activity

Students will be guided by staff in their learning using a combination of private study, interactive lectures, novel 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 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 and 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.
2. Understand numerical formulae to assess parameters such as Hardy Weinberg equilibrium; allele frequency; linkage disequilibrium and genetic and physical distance between genomic markers
3. 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 and demonstrate, through completion of formative quizzes and summative learning log that students are engaging in and developing their own ongoing learning.