BI2MG2: Medical Genetics

Module code: BI2MG2

Module provider: School of Biological Sciences

Credits: 20

Level: 5

When you’ll be taught: Semester 2

Module convenor: Dr William Cross , email: w.c.cross@reading.ac.uk

Module co-convenor: Dr Dyan Sellayah, email: d.sellayah@reading.ac.uk

Pre-requisite module(s): BEFORE TAKING THIS MODULE YOU MUST ( TAKE BI1CMP1 AND TAKE BI1AP3 ) OR ( TAKE BI1BEC1 AND TAKE BI1AP12 ) (Compulsory)

Co-requisite module(s):

Pre-requisite or Co-requisite module(s):

Module(s) excluded:

Placement information: NA

Academic year: 2025/6

Available to visiting students: Yes

Talis reading list: Yes

Last updated: 11 April 2025

Overview

Module aims and purpose

Medical Genetics is a field that utilises the genetic and heritable basis of diseases part of clinical practice. The focus of this module is on understanding the specific mechanisms and mutation types that impact pathophysiology and influence disease risk, progression, and severity. The module will take an integrated and varied approach to the study, with a focus on both classical Mendelian and complex polygenic disorders, and how modern technology and healthcare providers undertake diagnosis and treatment. The module also serves to provide knowledge of innovative genomics technologies including genome-wide association studies (GWAS), single cell transcriptomics and gene-editing technologies (e.g. CRISPR), which are revolutionising research and in turn our understanding of human genetics as a whole.

Module learning outcomes

By the end of the module, it is expected that students will be able to:

1. Describe how specific molecular genetic defects (mutations) impact on pathophysiology and lead to a particular disease.
2. Describe the mechanisms associated with mutations, including chromosome aberrations and epigenetic events and discuss how patterns of inheritance impact on disease risk and severity.
3. Discuss the technologies deployed in a modern Medical Genetics Laboratory as part of diagnosis, and now emerging techniques are being used in research to discover new knowledge.
4. Interpret analytical data derived from Medical Genetics Laboratories and provide the most likely diagnoses using medical language.
5. Discuss how the practices associated with Medical Genetics have changed following the advent of Genomics and other modern technologies.

Module content

The module will cover classical Mendelian genetic disorders together with a selection of clinically important polygenic and epigenetic disorders (which may be impacted by environmental factors). The module will also focus both on genomics technologies and research approaches that are used to study, diagnose and research genetic disorders, as well the aetiology, molecular and physiological consequences of the genetic defects (pathophysiology) and clinical approaches to their management and treatment.  

The module is split across three main parts: applications in healthcare, mechanisms of disease I-IV, and some integrated case studies. The first session will present an overview of the module and the role of genetics in modern healthcare. In the immediate weeks that follow key disorders, such as Cystic Fibrosis and Breast Cancer, will be introduced (including the genetic basis of these diseases) along with the clinical context, including diagnosis, management and treatment of the disorder. This process is linked to the first assessment, where the students will undertake a case report in exam conditions, providing the correct diagnoses. Following through weeks 7-13 discussions will be formed of how modern genetic technologies and approaches have been used to improve knowledge of the genetic basis for the disorder in question, or to improve clinical outcomes. These sessions, along with weeks 1-6, form the basis of the in-person essay assessment.

Structure

Teaching and learning methods

The learning outcomes will be met through a mixture of lectures, seminars, self-directed learning and directed independent study. Appropriate supplementary information and reading lists will be provided on Blackboard.  

Study hours

At least 40 hours of scheduled teaching and learning activities will be delivered in person, with the remaining hours for scheduled and self-scheduled teaching and learning activities delivered either in person or online. You will receive further details about how these hours will be delivered before the start of the module.

Please note the independent study hours above are notional numbers of hours; each student will approach studying in different ways. We would advise you to reflect on your learning and the number of hours you are allocating to these tasks.

Semester 1 The hours in this column may include hours during the Christmas holiday period.

Semester 2 The hours in this column may include hours during the Easter holiday period.

Summer The hours in this column will take place during the summer holidays and may be at the start and/or end of the module.

Assessment

Requirements for a pass

Students need to achieve an overall module mark of 40% to pass this module.

Students taking the BSc Biomedical Science or MSci Biomedical Science programme must also achieve a mark of at least 40% in each summative assessment.

Summative assessment

Penalties for late submission of summative assessment

The Support Centres will apply the following penalties for work submitted late:

Assessments with numerical marks

• where the piece of work is submitted after the original deadline (or any formally agreed extension to the deadline): 10% of the total marks available for that piece of work will be deducted from the mark for each working day (or part thereof) following the deadline up to a total of three working days;
• the mark awarded due to the imposition of the penalty shall not fall below the threshold pass mark, namely 40% in the case of modules at Level 3 (i.e. foundation modules for Part 0) and Levels 4-6 (i.e. undergraduate modules for Parts 1-3) and 50% in the case of Level 7 modules offered as part of an Integrated Masters or taught postgraduate degree programme;
• where the piece of work is awarded a mark below the threshold pass mark prior to any penalty being imposed, and is submitted up to three working days after the original deadline (or any formally agreed extension to the deadline), no penalty shall be imposed;
• where the piece of work is submitted more than three working days after the original deadline (or any formally agreed extension to the deadline): a mark of zero will be recorded.

Assessments marked Pass/Fail

• where the piece of work is submitted within three working days of the deadline (or any formally agreed extension of the deadline): no penalty will be applied;
• where the piece of work is submitted more than three working days after the original deadline (or any formally agreed extension of the deadline): a grade of Fail will be awarded.

The University policy statement on penalties for late submission can be found at: /cqsd/-/media/project/functions/cqsd/documents/qap/penaltiesforlatesubmission.pdf

You are strongly advised to ensure that coursework is submitted by the relevant deadline. You should note that it is advisable to submit work in an unfinished state rather than to fail to submit any work.

Formative assessment

Formative assessment is any task or activity which creates feedback (or feedforward) for you about your learning, but which does not contribute towards your overall module mark.

The students will be provided the opportunity for group discussion prior to the mid-term assessment. Since this assessment is based on case studies the first set of lectures directly links to this.

Reassessment

Additional costs