GENE30030 Genetic Basis of Disease

Academic Year 2024/2025

This module forms part of the core curriculum for the BSc degrees in Genetics. The course focuses on the definition of genetic disease, and the methods used for identification, diagnosis and possible treatment. The concept of linkage analysis is examined and illustrated using specific examples, including the identification of the causative molecular defects in cystic fibrosis. Concepts such as anticipation (the tendency of genetic disease to appear earlier and with increased effect in succeeding generations) are discussed in the context of inheritance of neurological disorders. The course covers the genetic inheritance of neurological diseases and cancer as well as targeted treatment strategies. The implications of recent developments in genomics are considered, and possible future therapeutic strategies such as nuclear transfer and gene therapy are discussed. Practical skills are a core component of the module. Students will identify polymorphisms in human DNA, learn how to analyse patterns of inheritance, use genomic methods to predict susceptbility to disease, apply computational methods to identify genes associated with human disease, and study genome alterations in cancer cells.

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Curricular information is subject to change

Learning Outcomes:

On completion of this module students should be able to:1. Describe the mechanisms of inheritance of genetic disease.2. Demonstrate the application of linkage analysis to the identification of human disease genes.3. Describe the molecular basis of selected genetic diseases.4. Discuss the implementation of novel therapeutic strategies.5. Apply experimental and computational methods to the identification of human disease genes.

Student Effort Hours: 
Student Effort Type Hours




Autonomous Student Learning




Approaches to Teaching and Learning:
The module is composed of lectures and 4 x lab based practicals. Approaches include lectures, lab work and active/task-based learning. 
Requirements, Exclusions and Recommendations
Learning Recommendations:

It is strongly recommended that students have taken BMOL20010 Molecular Genetics and Biotechnology, or GENE20010 Animal and Plant Genetics, or other modules with similar learning outcomes.

Module Requisites and Incompatibles
Genetic Basis of Disease (BMOL30010)

Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade

Not yet recorded.

Carry forward of passed components
Resit In Terminal Exam
Autumn Yes - 2 Hour
Please see Student Jargon Buster for more information about remediation types and timing. 
Feedback Strategy/Strategies

• Feedback individually to students, post-assessment
• Online automated feedback

How will my Feedback be Delivered?

Students grades and feedback is provided individually post assessment

Name Role
Professor Geraldine Butler Lecturer / Co-Lecturer
Dr Greg Tsolkas Tutor