BM7122 - Medical Genetics and Genomics (2023/24)
|Module approved to run in 2023/24
|Medical Genetics and Genomics
|Credit rating for module
|School of Human Sciences
|Total study hours
|Running in 2023/24(Please note that module timeslots are subject to change)
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
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
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.
The module will be summatively assessed by the completion of a 2000 word report on a selected genetic topic (50%) and by an end of module test (50%) (1.5 hours) comprising short answer questions.
To pass the module students must achieve a minimum aggregate mark of 50%
Component Marks Learning outcomes
report 50% 2,3
online exam 50% 1,3
Human Molecular Genetics, Nature Genetics, Nature Reviews Genetics, Trends in Genetics