BMD2001 : Genomics and Gene expression in Disease (Inactive)
- Inactive for Year: 2025/26
- Module Leader(s): Dr Shiney Mathew
- Co-Module Leader: Dr Joanna Elson
- Lecturer: Dr Mauro Santibanez Koref, Dr Jeremy Brown, Dr Simon Whitehall
- 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 1 Credit Value: | 20 |
| ECTS Credits: | 10.0 |
| European Credit Transfer System | |
Aims
The aim of this module is to:
Equip students with knowledge about the structure, function, and variation of the human genome.
Develop knowledge and understanding of the mechanisms by which eukaryotes regulate gene expression through control of transcription, chromatin, mRNA stability and translation.
Discuss the role of genetic variation and gene expression changes in the pathogenesis of disease.
Consider different approaches, including use of bioinformatics tools, for identifying genes underlying human genetic disorder and characterizing their functions
Outline Of Syllabus
Topics covered by this module include:
the organisation of the human genome and its impact on mutation, variation, and function.
regulatory mechanisms of gene expression, methods for studying expression patterns
approaches to investigating human genetic disorders, including the identification of causative genes and their functions.
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Scheduled Learning And Teaching Activities | Lecture | 20 | 1:00 | 20:00 | Core module knowledge lectures |
| Guided Independent Study | Assessment preparation and completion | 1 | 56:00 | 56:00 | Preparation for in-course assessment, poster preparation and revision for online exams |
| Scheduled Learning And Teaching Activities | Practical | 1 | 2:00 | 2:00 | Skills workshop (PC cluster) identifying disease-associated genetic variants, exploring their implications, and designing gene editing experiments |
| Scheduled Learning And Teaching Activities | Small group teaching | 2 | 1:00 | 2:00 | Seminars |
| Scheduled Learning And Teaching Activities | Workshops | 2 | 2:00 | 4:00 | WS1 Bioinformatics tools (cluster based) workshop. WS2 Scientific paper interpretation workshop. |
| Guided Independent Study | Independent study | 1 | 115:00 | 115:00 | Writing notes, reflecting on lectures based on textbooks and recap |
| Scheduled Learning And Teaching Activities | Module talk | 1 | 1:00 | 1:00 | Feedback session |
| Total | 200:00 |
Teaching Rationale And Relationship
Lectures will provide students with foundational knowledge and a comprehensive understanding of the key concepts, principles, and methodologies in genomics, gene expression, and their roles in disease. They serve to introduce and explain theoretical content that forms the basis for more applied and practical learning.
Seminars will complement lectures by promoting active learning, critical thinking, and collaborative problem-solving by engaging in group discussions, case studies, and problem-solving activities.
Practical session and workshop will provide hands-on experience with key techniques and bioinformatics tools used in genomics and gene expression research.
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Digital Examination | 90 | 1 | A | 60 | Inspera invigilated MCQ (max 60)+ SAQ including data interpretation questions (max 6) |
Other Assessment
| Description | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|
| Portfolio | 1 | M | 40 | In-course Informatics assessment via Canvas (20%); invigilated timed essay (45 minutes) (20%) |
Formative Assessments
Formative Assessment is an assessment which develops your skills in being assessed, allows for you to receive feedback, and prepares you for being assessed. However, it does not count to your final mark.
| Description | Semester | When Set | Comment |
|---|---|---|---|
| Digital Examination | 1 | M | Inspera invigilated paper interpretation exercise (60 mins); formative practice exam |
Assessment Rationale And Relationship
In order to pass this module, all summative assessments and portfolio components must be passed, alongside achieving an overall module mark of 40%.
Digital examination will assess the students' knowledge and understanding of taught material and ability to critically interpret experimental data
Informatics assessment (via CANVAS) will test ability to use bioinformatics tools to find and interpret informatics data.
The timed essay assesses each student’s knowledge base, comprehension and ability to discuss the subject critically in written format.
The formative paper interpretation exercise will support development of ability to critically interpret experimental data
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BMD2001's Timetable