2025/26 Undergraduate Module Catalogue

BMSC3152 Inherited Disorders

20 Credits Class Size: 100

Module manager: Dr Alasdair Pickles
Email: a.r.pickles@leeds.ac.uk

Taught: Semester 1 (Sep to Jan) View Timetable

Year running 2025/26

Pre-requisite qualifications

Successful completion of biomedical science-related level 5 modules

Pre-requisites

BMSC1216 Introduction to Pharmacology
BMSC1216T Introduction to Pharmacology (Teaching)

Module replaces

BMSC3101

This module is not approved as a discovery module

Module summary

The module involves the study of the genetic basis for various single gene disorders, focusing on the inheritance of mutations in genes and their resulting impact on the gene product. The genotype-phenotype link will be examined through research on specific topics assigned to students, who will deliver both an oral presentation and prepare a detailed literature review/essay on the topic to give a detailed account of the gene involved, normal physiological function of the gene product, mutations that occur and the functional consequences of the mutations which arise in the clinical phenotype (inherited disorder). Introductions and background information will be given by way of digital content and in-person information, and guidance sessions including a clinical geneticist external lecturer to give detailed specialist, real-world information and examples to complement and enhance the learning experience for the students.

Objectives

Aims and objectives of this module are to enhance the student’s understanding and appreciation of a range of single gene genetic disorders through directed independent research. Students will demonstrate the research undertaken by leading oral presentations in seminar-style sessions and by providing detailed written accounts to support the presentations. The teaching approach will encourage students to become strong independent learners and develop key transferable skills, as listed in the skills learning outcomes.

Learning outcomes

On successful completion of the module students will have demonstrated the following learning outcomes relevant to the subject:

On completion of this module, students should be able to:

1. Demonstrate knowledge of selected receptors, enzymes and channels that are central to a range of inherited disorders covered in this module;
2. Evaluate the general principles involved in the study of inherited disorders;
3. Utilise the web-based OMIM database of inherited disorders, together with selected papers from the scientific literature;
4. Critically evaluate and synthesise the available data on selected inherited disorders;

Skills Learning Outcomes

On successful completion of the module students will have demonstrated the following skills learning outcomes:

5. Demonstrate clear verbal and written communication skills
6. Demonstrate effective team working and collaboration skills

Syllabus

The syllabus will comprise a general introduction to the study of single gene inherited disorders and the general principles involved in the study of inherited disorders. Inherited disorders arising as a result of mutations in genes and the dysfunction of gene product will be covered in detail and may include (but not be restricted to):

insulin receptor, vasopressin V2 receptor, thyroid stimulating hormone receptor, factor V, cystathione betasynthase, parkin, CFTR chloride channel, alpha1S calcium channel, EnaC sodium channel, lipoprotein lipase.

Teaching Methods

Delivery type Number Length hours Student hours
Lecture 2 1 2
Practical 6 3 18
Seminar 5 1 5
Independent online learning hours 1
Private study hours 174
Total Contact hours 25
Total hours (100hr per 10 credits) 200

Opportunities for Formative Feedback

Students will be given feedforward guidance in the computer cluster session on the approach required for the presentations and written assessments.

Methods of Assessment

Coursework
Assessment type Notes % of formal assessment
Coursework Oral presentation - 1 individual plus contribution to team member’s presentation 32.5
Coursework Literature review/essay - 1500 words to provide detailed support and explanation for topic covered in oral presentation demonstrating depth of research and knowledge 32.5
Total percentage (Assessment Coursework) 65

Normally resits will be assessed by the same methodology as the first attempt, unless otherwise stated

Exams
Exam type Exam duration % of formal assessment
Online Time-Limited assessment 2.0 Hrs 0 Mins 35
Total percentage (Assessment Exams) 35

Normally resits will be assessed by the same methodology as the first attempt, unless otherwise stated

Reading List

There is no reading list for this module

Last updated: 11/02/2025

Errors, omissions, failed links etc should be notified to the Catalogue Team