BGM2057 : Medical genomics: from DNA to disease
BGM2057 : Medical genomics: from DNA to disease
- Offered for Year: 2024/25
- Module Leader(s): Dr Joanna Elson
- Lecturer: Dr Mauro Santibanez Koref, Professor Heather Cordell, Dr Simon Bamforth, Dr Katarzyna Pirog, Dr Louise Reynard, Dr Michael Jackson, Professor John Sayer, Dr Catherine Meplan, Professor Lyle Armstrong
- Owning School: Biomedical, Nutritional and Sports Scien
- Teaching Location: Newcastle City Campus
Semesters
Your programme is made up of credits, the total differs on programme to programme.
Semester 2 Credit Value: | 20 |
ECTS Credits: | 10.0 |
European Credit Transfer System | |
Pre-requisite
Modules you must have done previously to study this module
Pre Requisite Comment
N/A
Co-Requisite
Modules you need to take at the same time
Co Requisite Comment
None.
Aims
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
Learning Outcomes
Intended Knowledge Outcomes
By the end of the module the student will be able to:
1) describe the main features of the human genome
2) differentiate amongst at least three methodologies for generating mouse models
3) describe, with examples, at least three mechanisms regulating gene expression
4) discuss approaches to studying gene expression patterns
5) explain, with examples. approaches used to identify human disease genes.
Intended Skill Outcomes
By the end of the module students will be able to:
1) plan and critically analyse recent research literature relating to specific research topics
2) analyse genetic information using in silico databases and genome browsers
Teaching Methods
Teaching Activities
Category | Activity | Number | Length | Student Hours | Comment |
---|---|---|---|---|---|
Guided Independent Study | Assessment preparation and completion | 1 | 55:00 | 55:00 | Preparation for in-course assessment and exams |
Scheduled Learning And Teaching Activities | Lecture | 18 | 1:00 | 18:00 | In person - Used as primary method of knowledge transfer. Further reading and self-directed learning given |
Guided Independent Study | Assessment preparation and completion | 2 | 4:00 | 8:00 | Students will prepare for practicals using references & online material provided by pract leaders |
Scheduled Learning And Teaching Activities | Practical | 2 | 3:00 | 6:00 | In person - Computer based practicals |
Scheduled Learning And Teaching Activities | Small group teaching | 1 | 1:00 | 1:00 | In person - workshop: how to write answer PIE-style questions |
Scheduled Learning And Teaching Activities | Small group teaching | 1 | 1:00 | 1:00 | In person - seminar/debate on genetic testing, 23 and me & ethical implications of genomic medicine |
Scheduled Learning And Teaching Activities | Small group teaching | 1 | 1:00 | 1:00 | In person - An assessment feedback and revision session before the exam |
Scheduled Learning And Teaching Activities | Small group teaching | 1 | 1:00 | 1:00 | In person - how to write an essay & how to research prior to final assessment. Support for the timed essay |
Guided Independent Study | Independent study | 1 | 109:00 | 109:00 | Writing notes and reflecting on lectures based on text books and Recap |
Total | 200:00 |
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.
Reading Lists
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
Description | Length | Semester | When Set | Percentage | Comment |
---|---|---|---|---|---|
Written Examination | 30 | 2 | A | 20 | In person Inspera invigilated MCQ (30 Mins) (20%) max 50 questions |
Written Examination | 90 | 2 | A | 50 | Part 2 written essays exams to be scheduled together. (Inspera to be open for the duration of the examination (120 mins) |
Other Assessment
Description | Semester | When Set | Percentage | Comment |
---|---|---|---|---|
Essay | 2 | M | 30 | In person invigilated timed essay based on 2-3 papers given a month prior to the essay plus PIE style SAQ on one of the papers - 1.5 hour in length, max 5 questions |
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.
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BGM2057's Timetable
Past Exam Papers
- Exam Papers Online : www.ncl.ac.uk/exam.papers/
- BGM2057's past Exam Papers
General Notes
Original Handbook text:
Welcome to Newcastle University Module Catalogue
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Disclaimer
The information contained within the Module Catalogue relates to the 2024 academic year.
In accordance with University Terms and Conditions, the University makes all reasonable efforts to deliver the modules as described.
Modules may be amended on an annual basis to take account of changing staff expertise, developments in the discipline, the requirements of external bodies and partners, and student feedback. Module information for the 2025/26 entry will be published here in early-April 2025. Queries about information in the Module Catalogue should in the first instance be addressed to your School Office.