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BGM2057 : Medical genomics: from DNA to disease

  • Offered for Year: 2021/22
  • Module Leader(s): Dr Joanna Elson
  • Lecturer: Dr Katarzyna Pirog, Dr Simon Bamforth, Dr Michael Jackson, Professor John Sayer, Dr Louise Reynard, Professor Lyle Armstrong, Dr Mauro Santibanez Koref, Professor Heather Cordell, Dr Ian Wilson
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus
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
Scheduled Learning And Teaching ActivitiesLecture181:0018:00PIP - Used as primary method of knowledge transfer. Further reading and self-directed learning given
Guided Independent StudyAssessment preparation and completion155:0055:00Preparation for in-course assessment and exams
Guided Independent StudyAssessment preparation and completion24:008:00Students will prepare for practicals using references & online material provided by pract leaders
Scheduled Learning And Teaching ActivitiesPractical23:006:00PIP - Computer based practicals
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00PIP - seminar/debate on genetic testing, 23 and me & ethical implications of genomic medicine
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00PIP - how to write an essay & how to research prior to final assessment. Support for the timed essay
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00PIP - An assessment feedback and revision session before the exam
Guided Independent StudyIndependent study1110:00110:00Writing notes and reflecting on lectures based on text books and Recap
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 lectures will include links to papers, videos and books to aid self-directed study.

The seminar will support the students in developing skills for writing timed essays. The practicals enable the students to navigate online resources and synthesise and apply the knowledge gained.

Public Health contingency:
All lectures, seminars and practicals can/will move to online either as synchronous or non-synchronous delivery.

Assessment Methods

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

Description Length Semester When Set Percentage Comment
Written Examination1202A70Invigilated MCQ (30%) (30 mins) and timed essay (70%) 2 from a choice of 4 (90 mins)
Other Assessment
Description Semester When Set Percentage Comment
Essay2M30Timed essay based on 2 papers given a month prior to the essay - 1 hour in length - PIP
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 practicals promote understanding, ability to navigate online resources and helps to synthesise and apply the knowledge gained.

Public health contingency:
Invigilated exam can/will move to online (24-hour take home); 30% MCQ or may replace MCQ with SAQs and 70% essay (2 from 4; 1250 words each)

Reading Lists