MMB8058 : Mechanisms in Genetic Disease: from Genotype to Phenotype
- Offered for Year: 2025/26
- Module Leader(s): Dr Louise Reynard
- Co-Module Leader: Dr Helen Phillips, Professor Heather Cordell
- Lecturer: Dr Sarah Rice, Dr Joanna Elson, Dr Gavin Clowry, Dr George Mells, Dr Katarzyna Pirog, Dr Christopher Morris, 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 1 Credit Value: | 20 |
| ECTS Credits: | 10.0 |
| European Credit Transfer System | |
Aims
Our DNA controls how our bodies develop and function, from the moment of fertilisation onwards. Any mistakes in our genetic code, whether inherited from parents, a de novo mutation or common variation, can result in phenotypic consequences ranging from rare Mendelian disorders to common complex traits and diseases. This module focuses on understanding the consequences of the genetic variation – the relationship between genotype and phenotype – from a research perspective (uncovering biological mechanisms, leading to the potential for development of new treatments), thus complementing the material taught MMB8030 which takes more of a clinical diagnostic perspective. The module is taught by clinical and research colleagues from the Faculty of Medical Sciences, and the primary aims of this module are to:
• inform students about common and rare genetic variation and the genetics of Mendelian and non-Mendelian (complex) disease.
• introduce students to the different strategies and information input required to identify genes in complex diseases.
• compare the various practical approaches used to identify the genetic basis of common complex diseases and to elucidate the role of genes in causing disease.
• provide students with a comprehensive knowledge about the latest research technologies applied to the analysis and understanding of gene functions
• showcase research carried out in Newcastle and beyond that investigates the molecular mechanisms linking genotype to phenotype, and show how this knowledge can lead to clinical benefit.
Outline Of Syllabus
The module will cover:
Genetic variation and the definition of Mendelian and complex genetic diseases.
Genome-wide association studies.
Data/results interpretation and use of computer packages for performing statistical genetic analysis
Knowledge of key examples of Mendelian and complex diseases
The role of DNA enhancers and target gene expression in development and disease
Human tissue-specific gene expression analysis and online databases.
Practical approaches to investigate gene function in vivo and their application in medical genetics.
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Guided Independent Study | Assessment preparation and completion | 60 | 1:00 | 60:00 | Summative written assignment. |
| Scheduled Learning And Teaching Activities | Lecture | 20 | 1:00 | 20:00 | Present in person (PIP) Lectures |
| Guided Independent Study | Assessment preparation and completion | 2 | 1:00 | 2:00 | 24 hour take home summative written assignment. |
| Guided Independent Study | Assessment preparation and completion | 40 | 1:00 | 40:00 | Additional supplementary reading and revision of course material for summative written assignments. |
| Structured Guided Learning | Academic skills activities | 12 | 1:00 | 12:00 | Canvas quiz questions/discussion boards following lectures |
| Scheduled Learning And Teaching Activities | Workshops | 1 | 1:00 | 1:00 | Present in person (PIP) Database Workshop using own laptops |
| Scheduled Learning And Teaching Activities | Workshops | 1 | 2:00 | 2:00 | Present in person (PIP) IT Workshop (Computer Practical) |
| Scheduled Learning And Teaching Activities | Workshops | 1 | 2:00 | 2:00 | Present in person (PIP) 23andMe session |
| Guided Independent Study | Reflective learning activity | 25 | 1:00 | 25:00 | Formative assessment and Reflective Learning from feedback |
| Guided Independent Study | Independent study | 12 | 3:00 | 36:00 | Directed research and reading following lectures. |
| Total | 200:00 |
Teaching Rationale And Relationship
Lectures will provide the students with a specific knowledge as a platform for private study. Together with computer practicals and workshops, these lecture materials will encourage the students to reflect both individually and in small groups on the state of knowledge in research in Mendelian and complex diseases. The workshops will encourage the students to reflect on their learning. Students will also practice critical appraisal, data analysis and interpretation during the computer workshops. All of these activities relate directly to the learning outcomes above.
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Written Examination | 1440 | 1 | M | 40 | 24 hour summative assessment with a choice of 3 out of 5 short answer questions (maximum 1500 words total). The student is encouraged to spend only 2 hours within the designated 24 hour period working on this assessment. |
Other Assessment
| Description | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|
| Research proposal | 1 | M | 60 | In-course research proposal, maximum 2000 words |
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 |
|---|---|---|---|
| Written exercise | 1 | M | Lay and scientific abstracts (250 words each) of the proposed research study design used for research proposal written assignment (In-course essay). |
Assessment Rationale And Relationship
A summative end of module written assessment will test the student’s knowledge, understanding and critical thinking skills, as well as engagement with the series of lectures, seminars and computer workshops delivered throughout the module.
The lectures and seminars will provide specific knowledge and key facts in methods to investigate the molecular mechanisms linking genetic variants/mutations to disease phenotype. Together with self-directed reading and study, this will enable the students to develop their own 2000 word research proposal focusing on functional characterisation of a disease-associated genetic variant. This assessment will test the student’s ability to critically appraise the potential benefits and limitations for different methods used to investigate the underlying molecular mechanisms of genetic causes of disease, and select the most appropriate research strategies for functionally characterising a specific DNA variant/mutation.
The formative written exercise entails writing a 250 word lay abstract and a 250 word scientific abstract based on research outlined in the summative research proposal. This assessment will support students understanding of the topic and gain skills in summarising research for a scientific and lay audience. Feedback on this assessment will help improve students’ performance in future assessments, including the Research Proposal itself as well as the Research Project lay abstract assessment in semester 3.
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- MMB8058's Timetable