GENE40050 Human Genetics & Disease

Academic Year 2024/2025

This module covers advanced topics in the genetics of human disease. It is strongly recommended that students have taken GENE30030 Genetic Basis of Disease, or other modules with similar learning outcomes.

Topics covered will include the molecular genetics of selected disorders, including mendelian and rare genetic disorders such as Sickle Cell Anemia and Rubinstein Taybi syndrome. Recent advances in identifying polymorphisms associated with disease will be discussed. These include applications of next-generation sequencing, and the identification of variants associated with disease. Medical genetics approaches that involve genetic information in clinical treatment regimens will be detailed. Genetics and epigenetics role in cancer onset and treatment will be described.

The course will include an applied aspect, and students will learn how to interrogate large-scale genetic databases such as the Cancer Dependency Map (DEPMAP).

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Curricular information is subject to change

Learning Outcomes:

On completion of this module students should be able to:

1. Critically evaluate recent research findings in human genetics.
2. Discuss the application of modern research methods to studying problems in human genetics.
3. Demonstrate an understanding of the molecular genetics of selected diseases.
4. Apply large-scales databases to the study of genetic disease.

Student Effort Hours: 
Student Effort Type Hours
Autonomous Student Learning

90
Lectures

12
Total

102
Approaches to Teaching and Learning:
Lectures, task-based activities. 
Requirements, Exclusions and Recommendations
Learning Recommendations:

It is strongly recommended that students have taken GENE30030 Genetic Basis of Disease, or other modules with similar learning outcomes.


Module Requisites and Incompatibles
Not applicable to this module.
 
Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade
Quizzes/Short Exercises: Continuous Assessment: In class assessment based on computational exercises carried out during tutorials. n/a Alternative linear conversion grade scale 40% No

30
Exam (In-person): Examination: End of trimester exam n/a Standard conversion grade scale 40% No

70

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

• Group/class feedback, post-assessment

How will my Feedback be Delivered?

Not yet recorded.

Name Role
Dr Eric Conway Lecturer / Co-Lecturer
Dr David Hughes Lecturer / Co-Lecturer