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GENE40050

Academic Year 2024/2025

Human Genetics & Disease (GENE40050)

Subject:
Genetics
College:
Science
School:
Biomolecular & Biomed Science
Level:
4 (Masters)
Credits:
5
Module Coordinator:
Dr Eric Conway
Trimester:
Spring
Mode of Delivery:
Blended
Internship Module:
No
How will I be graded?
Letter grades

Curricular information is subject to change.

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).

About this Module

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
Lectures

12
Autonomous Student Learning

90
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 Component Scale Must Pass Component % of Final Grade In Module Component Repeat Offered
Exam (In-person): Examination: End of trimester exam End of trimester
Duration:
2 hr(s)
 Standard conversion grade scale 40% No
70
 No
Quizzes/Short Exercises: Continuous Assessment: In class assessment based on computational exercises carried out during tutorials. Week 1, Week 2, Week 3, Week 4, Week 5, Week 6, Week 7, Week 8, Week 9, Week 10, Week 11, Week 12, Week 14, Week 15 Alternative linear conversion grade scale 40% No
30
 No

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

Timetabling information is displayed only for guidance purposes, relates to the current Academic Year only and is subject to change.
Spring Lecture Offering 1 Week(s) - 24, 25, 26, 29 Thurs 09:00 - 09:50
Spring Lecture Offering 1 Week(s) - 24, 25, 26, 29 Tues 09:00 - 09:50
Spring Tutorial Offering 1 Week(s) - 25 Tues 15:00 - 16:50
Spring Tutorial Offering 1 Week(s) - 26 Tues 15:00 - 16:50
Spring Lecture Offering 1 Week(s) - 24, 25, 26 Wed 14:00 - 14:50
Spring Tutorial Offering 1 Week(s) - 29 Wed 14:00 - 15:50
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