module specification

BM7122 - Medical Genetics and Genomics (2024/25)

Module specification Module approved to run in 2024/25
Module title Medical Genetics and Genomics
Module level Masters (07)
Credit rating for module 20
School School of Human Sciences
Total study hours 200
39 hours Scheduled learning & teaching activities
24 hours Assessment Preparation / Delivery
137 hours Guided independent study
Assessment components
Type Weighting Qualifying mark Description
Coursework 50%   Report (2000 words)
Seen Examination 50%   Online Seen Exam (1.5 hour)
Running in 2024/25

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

Module summary

This module focuses on human diseases with a genetic component, from monogenic disorders to complex, multifactorial diseases. Consideration is also given to hereditary mechanisms not linked to DNA sequence (e.g. genomic imprinting).
The module aims to provide an appreciation of the genetic basis of inherited diseases and, wherever possible, relate disease phenotype to mutations in gene products or to aberrations in gene expression. The material covered emphasises how an understanding of human biology has advanced through the study of genetic diseases, explores the development of therapeutic strategies using up-to-date primary sources and discusses the latest technological innovations.

Prior learning requirements


Module aims



Genetic variation in individuals and populations: autosomal dominant and recessive inheritance; sex-linked and mitochondrial inheritance; complexities of inheritance patterns.
Epigenetics and the control of gene expression at varying levels.
Clinical cytogenetics: chromosomal basis of syndromic disease.
Clinical aspects of monogenic and multifactorial inheritance: disorders of metabolism, haemoglobinopathies and other common diseases.
Selected specialist topics including developmental genetics, cancer genetics, immunogenetics.
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.
The study of genetic factors associated with infectious disease



Balance of independent study and scheduled teaching activity

Students will be guided in their learning using a combination of private study, interactive lectures, 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 material through the completion 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 and teaching


Learning outcomes

On successful completion of this module students will be able to:
1.  Articulate a deep understanding of the genetic basis of a range of diseases and the complexities of their inheritance patterns and understand and apply numerical formulae to assess parameters such as Hardy Weinberg equilibrium, allele frequency, and the heritable risk of monogenic autosomal and sex linked disorders and of complex diseases;
2.  Recognise, interpret and explain to a high level of competency, changes in gene structure or expression in terms of the development of disease phenotype;
3.  Discuss and defend the wide scope of clinical practice in relation to the diagnosis and treatment of selected genetic diseases and critically evaluate published cutting-edge medical genetic research and produce a balanced review of a selected genetic topic using up-to-date primary sources. 


Human Molecular Genetics, Nature Genetics, Nature Reviews Genetics, Trends in Genetics