GENE40050 Human Genetics & Disease

Academic Year 2021/2022

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 pathogenesis of selected genetic disorders, including rare genetic disorders and pervasive developmental disorders such as autism and Rett's syndrome. Recent advances in identifying polymorphisms associated with disease will be discussed. These include applications of Whole Exome Sequencing and Whole Genome Sequencing, and the identification of variants associated with rare disease. The course will include an applied aspect, and students will learn how to interrogate large-scale genetic databases.

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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 pathogenesis 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
Examination: End of trimester exam 2 hour End of Trimester Exam No Graded No

80

Continuous Assessment: In class test based on computational exercises carried out during tutorials. Varies over the Trimester n/a Graded No

20


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 Sean Ennis Lecturer / Co-Lecturer
Dr David Hughes Lecturer / Co-Lecturer
Dr Niamh O'Sullivan Lecturer / Co-Lecturer
Professor Kenneth Wolfe 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) - 23, 24, 25, 28 Thurs 09:00 - 09:50
Lecture Offering 1 Week(s) - 23, 28 Tues 09:00 - 09:50
Tutorial Offering 1 Week(s) - 24 Tues 09:00 - 09:50
Tutorial Offering 1 Week(s) - 25 Tues 09:00 - 09:50
Tutorial Offering 1 Week(s) - 24 Tues 15:00 - 16:50
Tutorial Offering 1 Week(s) - 25 Tues 15:00 - 16:50
Lecture Offering 1 Week(s) - 23, 24, 25 Wed 14:00 - 14:50
Lecture Offering 1 Week(s) - 28 Wed 14:00 - 14:50
Spring