BGM2057 : Medical genomics: from DNA to disease
- Offered for Year: 2024/25
- Module Leader(s): Dr Joanna Elson
- Co-Module Leader: Dr Mauro Santibanez Koref
- Lecturer: Dr Katarzyna Pirog, Dr Louise Reynard, Dr Michael Jackson, Professor John Sayer, Dr Catherine Meplan, Professor Lyle Armstrong, Professor Heather Cordell, Dr Simon Bamforth
- 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 | |
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
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Scheduled Learning And Teaching Activities | Lecture | 17 | 1:00 | 17:00 | 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 |
| Structured Guided Learning | Lecture materials | 1 | 1:00 | 1:00 | Non-Synchronous online pre-recorded teaching material |
| Guided Independent Study | Assessment preparation and completion | 1 | 55:00 | 55:00 | Preparation for in-course assessment and exams |
| 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 - 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 |
| Scheduled Learning And Teaching Activities | Small group teaching | 1 | 1:00 | 1:00 | In person - workshop: how to write answer PIE-style questions |
| 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. The workshop will help students developing skills to address data interpretation questions.
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Written Examination | 90 | 2 | A | 49 | In person invigilated written timed essay (90 mins) 2 questions from choice of 4 & Inspera invigilated MCQ (30 mins) max 50 questions. Part 1 Inspera, Part 2 written, exams to be scheduled together. (Inspera to be open for the duration of exam 120 mins) |
| Digital Examination | 30 | 2 | A | 21 | In person Inspera invigilated MCQ (30 mins) max 50 questions & Written timed essay (90 mins) 2 questions from choice of 4. Part 1 Inspera, Part 2 written, exams to be scheduled together. (Inspera to be open for the duration of the exam 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 - 75 mins 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 PIE-style SAQs will test the ability of students to interpret scientific data and prepare them for similar assessments in 3rd year and for their 3rd year dissertation.
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BGM2057's Timetable