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BGM2057 : Medical genomics: from DNA to disease

Semester 2 Credit Value: 20
ECTS Credits: 10.0


1) To describe in detail the organisation of the human genome, including an overview of human variation and major projects investigating it.
2) To consider mechanisms for regulating gene expression and experimental approaches for studying gene expression.
3) To provide an overview of model organisms used in biomedical research and to consider approaches used to generate mouse models.
4) To consider different approaches for identifying genes underlying human genetic disorder and characterizing their functions.

Outline Of Syllabus

This module moves from describing the organisation of the human genome, through gene regulation and expression to methods and approaches for identifying genes involved in human genetic disorder and characterising their functions.

The module syllabus will contain:
-a detailed description of the organisation of the human genome and an introduction to how this influences mutation, variation, and function
-exploration of regulatory mechanisms controlling gene expression and approaches to studying expression patterns
-an overview of model organisms and classical and recent approaches for generating mouse models
-approaches for studying human genetic disorders will be discussed, covering some of the methods used to identify the underlying causative genes and what is known of gene function.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Guided Independent StudyAssessment preparation and completion24:309:00The students will prepare for the practicals using references provided by the practical leaders.
Guided Independent StudyAssessment preparation and completion155:0055:00Preparation for in-course assessment and exams
Scheduled Learning And Teaching ActivitiesLecture191:0019:00Used as primary method of knowledge transfer. Further reading and self-directed learning directed.
Scheduled Learning And Teaching ActivitiesPractical23:006:00Practicals will be computer-based and the students will gain both knowledge and skills.
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00Seminar will be on how to write an essay and will support students' preparation for the timed essay.
Guided Independent StudyReflective learning activity170:0070:00N/A
Guided Independent StudyReflective learning activity401:0040:00Writing notes and reflecting on lectures based on text books and RECAP lectures.
Teaching Rationale And Relationship

Lectures will provide the majority if the knowledge base. The lectures should stimulate the students to reflect and read further from textbooks and references highlighted during the lectures. The seminar will support the students in developing skills for analysing research papers. The practicals enable the students to navigate online resources and synthesise and apply the knowledge gained.

Assessment Methods

The format of resits will be determined by the Board of Examiners

Description Length Semester When Set Percentage Comment
Written Examination1202A8030 minutes EMI, 90 minutes essay writing (two from a choice of four).
Other Assessment
Description Semester When Set Percentage Comment
Essay2M10In course assessment, 1 hr in length
Computer assessment2M10In course assessment
Assessment Rationale And Relationship

The examination provides evidence of knowledge and understanding of the topic. The timed essay tests application of knowledge, understanding and critical evaluation skills. The computer-based assessment tests understanding, ability to navigate online resources and to synthesise and apply the knowledge gained.

Reading Lists