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Medical Genetics

Module titleMedical Genetics
Module codeCSC2004
Academic year2022/3
Module staff

Professor Andrew Crosby (Lecturer)

Dr Sawsan Khuri (Lecturer)

Duration: Term123
Duration: Weeks


Number students taking module (anticipated)


Description - summary of the module content

Module description

Our genetics influence every aspect of our growth, reproduction and health. Due to this, a deep understanding of how our genes are inherited and regulated, and how genetic sequence variants or epigenetic factors affect gene function is crucial for understanding normal human development, and the basis of genetic diseases. Knowing how molecular pathways function and are altered by gene variants is important to identify molecular biomarkers to monitor disease onset and progression, and define new therapies to treat disease. For example, research studies have detailed how breast cancer risk is greatly increased by the inheritance of specific BRCA1 gene variants, and discovered that some patients with maturity-onset diabetes of the young (MODY) may transfer from insulin injections onto sulphonylurea tablets taken orally. Thus medical genetics as practiced today involves close scientific, clinical and patient interaction. This module describes how genomic research and clinical genetic services work in close synergy to deliver modern diagnostic and clinical genetic services, and discusses some of the ethical challenges and considerations, as well as patient perspectives, associated with this ever increasingly important discipline.

This is a core module for students studying BSc (Hons) Medical Sciences (Human Genomics). You are required to have completed BIO1334 Genetics or BIO1341 Biochemistry and Genetics in order to take this module. It is an optional module for other students of BSc Medical Sciences and Biological Sciences.

Module aims - intentions of the module

Medical genetics begins with scientific research, which translates through clinical practice to touch the lives of patients and families with genetic disease on a daily basis. This module aims to provide a lens through which to view the core aspects of this multidisciplinary subject, describing how and why genetics is important in the development, diagnosis and treatment of disease. You will focus firstly on the basics of how genetic material is replicated, curated, and inherited, to enable an understanding of how genetic sequence variants lead to genetic disease, or to susceptibility to complex diseases. Genetic research and disease often raises challenging ethical questions and considerations, which will also be explored in the module You will also explore  the molecular mechanisms by which genes are regulated alongside the contribution and role of environment influences. Overall the module link clinical genetics practice with internationally-leading research strengths at CMH, to provide a holistic view of medical genetics from the scientific, clinical and patient perspectives.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

On successfully completing the module you will be able to...

  • 1. Describe in some detail and discuss the cellular and molecular basis of inheritance
  • 2. Explain the differences between acquired, monogenic, polygenic and epigenetic disease
  • 3. Explain the different mechanisms by which genes are regulated in humans
  • 4. Discuss the contribution of genetics and environment to disease processes in humans
  • 5. Show awareness of, and discuss the ethical issues in modern genetics
  • 6. Discuss with examples the importance of interaction between patients, scientists and clinicians

ILO: Discipline-specific skills

On successfully completing the module you will be able to...

  • 7. Demonstrate knowledge in Molecular and Clinical Genetics by written and verbal means
  • 8. Describe essential facts and theory in depth for a sub-discipline of medical sciences
  • 9. Critically appraise molecular, cellular and ethical aspects of current research in human genomics by reference to the literature

ILO: Personal and key skills

On successfully completing the module you will be able to...

  • 10. Communicate ideas, principles and theories effectively by written and verbal means to specialist and lay audience
  • 11. Develop, with some guidance, a logical and reasoned argument with valid conclusions
  • 12. Evaluate and properly manage information derived from the scientific literature, textbooks and the internet.

Syllabus plan

Syllabus plan

Whilst the module’s precise content may vary from year to year, an example of an overall structure is as follows. The module will cover the following topics with reference to the scientist, clinician and patient perspectives:


Topic 1: Cellular and molecular basis of inheritance (cell division, mutation/sequence variants, DNA replication and repair),

Topic 2: Forms of inherited disease (acquired, imprinted, monogenic, polygenic and epigenetic),

Topic 3: Genetic counselling and ethical issues in the modern clinical genetics/diagnostic services setting.

Topic 4: Gene expression and regulation (transcription, mRNA processing, non-coding RNA regulation, epigenetics)

Topic 5: Complex disease and polygenic inheritance (polygenic inheritance, gene; environment interactions)


Topics will be explored by expert-delivered lectures, either in person or online, and interactive ‘Arena’ sessions which involve recorded interviews or facilitated discussions between students, scientists, clinicians and where possible, patients, in relation to each topic. You will work together in facilitated structured small group learning (SSGL) sessions (approximately 10 per group) where members of the group work actively and collaboratively from a trigger case for each topic to identify concepts for guided independent study. The trigger case will not be linked to the Arena case, but will share concepts. Finally, a Resources session will take the form of an interactive large group Q&A session using mobile or other online polling techniques to highlight areas in need of further exploration, and include an introduction to online tools and resources that reinforce the learnings and will be needed for the assessments. This module is assessed through an engagement grade (10%), an SAQ open book exam (45%) and a 1500-word case study essay (45%).


In short, the lectures will give you the facts, the SSGLs give you an opportunity to explore those facts in more depth, the Arena allows you to see genetics in the clinic, and the resources sessions provide an opportunity to check and consolidate your learnings, and gain context and resources that will be needed for both the exam and the essay summative assessments.


This module has been designed for in person, blended or online learning. We will make use of flexible delivery options, including classroom, videos, whiteboard apps and MS Teams, as dictated by circumstances.

Learning and teaching

Learning activities and teaching methods (given in hours of study time)

Scheduled Learning and Teaching ActivitiesGuided independent studyPlacement / study abroad

Details of learning activities and teaching methods

CategoryHours of study timeDescription
Scheduled learning and teaching activities5Overview seminars to cover core concepts of each topic.
Scheduled learning and teaching activities10“Arena”- style multidisciplinary and interactive sessions to allow Patient, Scientist and Clinician’s perspective on each topic.
Scheduled learning and teaching activities10Facilitated sessions to identify specific topics for advanced study.
Scheduled learning and teaching activities10Interactive large group session to explore learning objectives arising from SSGL.
Scheduled learning and teaching activities1Whole group seminar to consolidate knowledge from the entire module.
Scheduled learning and teaching activities11 hour facilitated session to identify topics for individual further study.
Scheduled learning and teaching activities3Presentation of individual study topics followed by questions.
Guided independent study90Guided independent study to research learning objectives.
Guided independent study10Research on topic of individual study.
Guided independent study10Exam preparation


Formative assessment

Form of assessmentSize of the assessment (eg length / duration)ILOs assessedFeedback method
Facilitator and peer feedback on learningsquestionsContribution to shared resources and engagement with online resources1-12Verbal
Written summary of chosen case report500 words1-12Written, peer and facilitator feedback
Facilitator observation of interaction with patients, scientists and clinicians at Arena sessions, evidence of login and viewing of online contentFacilitator observation6,10Verbal or by email

Summative assessment (% of credit)

CourseworkWritten examsPractical exams

Details of summative assessment

Form of assessment% of creditSize of the assessment (eg length / duration)ILOs assessedFeedback method
Engagement in SSGLs and resources sessions10Attendance and contribution 6-12Written
Case report on an applied aspect of one of the topics covered 451500 words1-12Written
Short Answer Question exam451 hour 15 minutes1-12Written


Details of re-assessment (where required by referral or deferral)

Original form of assessmentForm of re-assessmentILOs re-assessedTimescale for re-assessment
Engagement in SSGLs and resources sessions (10%)Written answers to three questions on each session missed6-12Ref/Def period
Case report on an applied aspect of one of the topics covered (45%) Case report (1500 words)1-12Ref/Def period
SAQ exam (45%)SAQ exam (1 hour 15 minutes)1-12Ref/Def period

Re-assessment notes

Referred case reports are on the same topic.

Re-assessment of Engagement in SSGLs and resources sessions will only be needed if a student misses 7 or more sessions, and will be through written answers of three questions on each session missed that will be set by the module leads and assessed by the facilitators.

Please also refer to the TQA section on general Referral/Deferral guidelines:


Indicative learning resources - Basic reading

      These textbooks are all available electronically through the University Library 



ELE – College to provide hyperlink to appropriate pages

Indicative learning resources - Web based and electronic resources

Cochrane reviews:


Module has an active ELE page

Indicative learning resources - Other resources

Review articles and primary research publications

Key words search

Medical Genetics, Human genetic disease, Disease mechanisms, Gene regulation, Cancer, Ethical issues.

Credit value15
Module ECTS


Module pre-requisites

BIO2089 Molecular Biology of the Gene and BIO1334 Genetics.

Module co-requisites


NQF level (module)


Available as distance learning?


Origin date


Last revision date