Postgraduate Course: Human Genetic Disease: from mutations to therapy (BIME11209)
Course Outline
| School | Deanery of Biomedical Sciences |
College | College of Medicine and Veterinary Medicine |
| Credit level (Normal year taken) | SCQF Level 11 (Postgraduate) |
| Course type | Online Distance Learning |
Availability | Available to all students |
| SCQF Credits | 20 |
ECTS Credits | 10 |
| Summary | The course will explore the fundamental principles of human disease genetics at both the population and molecular level. While the focus of the course relates to human genetic disease at the widest level, many of the principals can be applied to understanding the genetics of cancer and particularly cancer-predisposition syndromes.
Teaching will begin exploring how, using a combination of population-level data and specific pathologies, causative mutations can be identified. The course will touch on polygenic risk for disease and address whether this is a valuable measure. The material will then more closely focus on examples of monogenic disease where either there is a clear genotype-to-phenotype relationship or where a range of mutations converge on the same genetic disease. Finally, we will address how genome editing is emerging as a potential treatment for genetic disease and explore some of the latest advances in genome editing for medicine.
This course builds on the considerable history of human genetics within the college and will advance the understanding of disease causation and cure. |
| Course description |
This SCQF Level 11 distance-learning course is designed to promote a comprehensive understanding of diverse aspects of human disease genetics from the population level to the molecular events that underpin disease.
There will be a strong emphasis on the use of cutting-edge multi-omics, computational and bioinformatic approaches to understand the contribution of mutation to disease development. The course will be delivered using the online Blackboard virtual learning environment with a combinationof recorded lectures, written work, practical tutorials and discussion boards.
Course materials will cover:
1. Using population data to identify candidate pathogenic mutations and discussing the value of this.
2. Identifying causative mutations in monogenic disease using worked examples.
3. How human genetic disease can be modelled using cellular and animal models.
4. How gene editing works and how this can (in principle) be used to correct genetic disease, discussing the approaches and current limitations.
5. Explore recent examples of how gene editing is being translated to patient benefit specifically exploring clinical trials.
Throughout the course, we will use real-world examples of data and students will be encouraged to analyse these data themselves building on practical and analytical skills as well as theory. Students will be assessed on their use and interpretation of this data.
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Entry Requirements (not applicable to Visiting Students)
| Pre-requisites |
|
Co-requisites | |
| Prohibited Combinations | |
Other requirements | None |
Information for Visiting Students
| Pre-requisites | None |
| High Demand Course? |
Yes |
Course Delivery Information
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| Academic year 2025/26, Available to all students (SV1)
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Quota: None |
| Course Start |
Flexible |
| Course Start Date |
04/08/2025 |
Timetable |
Timetable |
| Learning and Teaching activities (Further Info) |
Total Hours:
200
(
Lecture Hours 20,
Seminar/Tutorial Hours 20,
Online Activities 50,
Programme Level Learning and Teaching Hours 4,
Directed Learning and Independent Learning Hours
106 )
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| Assessment (Further Info) |
Written Exam
0 %,
Coursework
100 %,
Practical Exam
0 %
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| Additional Information (Assessment) |
Written 60% Online 40%
1. An assessed discussion board (20% of total grade) where the students will co-create content by responding to a series of discussion topics suggested by the course organiser over 6 weeks. The students will be encouraged to communicate with each other and the teaching team to share output generated from analysis of real-world data and to discuss the relevance of this in relation to their learnings and professional backgrounds. This assessment framework will relate to learning objectives 1, 2, 3 and 4.
2. The second coursework component will comprise a patient infographic (20% of total grade) where students will explain the use of gene editing to target a disease of their choice pulling from course materials and independent research. This relates to learning outcomes 1, 3 and 4.
3. The final assessed component is a data analysis project (60% of coursework). Students will be asked to identify a relevant data set and research question, appropriately analyse the dataset and produce a small (max 2000 word) report. This addresses learning outcomes 1,2 and 4.
Formative assessment (data analysis project): Discussion board feedback will allow students to assess their understanding of analysis of key datasets. Students will also be asked to submit an outline of the dataset and research question for feedback. |
| Feedback |
Formative feedback will be provided for the data analysis project in the form of individual feedback.
An open discussion forum (visible to all students on the course) will be available for each assignment where students can ask questions about what is required of them. They can check they have interpreted the assignment brief correctly and seek guidance on whether their general ideas are appropriate before they complete and submit their work.
Extensive summative feedback will be given for all assignments. The written assignments will be marked up directly in Grademark and additional summary feedback provided. Feedback for the discussion board assignments will be in the form of general comments on the level of engagement, content and quality of postings.
In all cases, feedback will clearly identify both positives and areas for improvement. |
| No Exam Information |
Learning Outcomes
On completion of this course, the student will be able to:
- Demonstrate extensive, detailed and critical knowledge of the fundamentals of human genetics in relation to human disease.
- Apply critical evaluation and synthesis, drawing on knowledge from a range of discipline specific resources, to identify mutations with potential causative connections to human disease and experimental models used to evaluate their effect.
- Critically evaluate state-of-the-art technologies in genome editing, and demonstrate critical knowledge of how these are being used to treat genetic disease.
- Clearly communicate data related to gene editing and genetic disease to a wide range of audiences.
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Reading List
| These will be provided as part of the course starting material. |
Additional Information
| Graduate Attributes and Skills |
The course will encourage the student to acquire skills in
- Critical thinking- By engaging with case studies, research articles, and real-world scenarios in gene editing approaches, students will enhance their ability to analyse evidence and make informed decisions about complex problems.
- Independent learning- Students will exercise substantial autonomy and take responsibility for their own work. This will teach good time management.
- Communication-students will learn to effectively present ideas and articulate complex scientific discoveries.
- Data analysis |
| Special Arrangements |
This course will be taught entirely by distance learning, using the virtual learning environment of Learn as the delivery platform. Course materials are protected by a secure username and password. These access details are made available to registered users only. |
| Keywords | human genetics,cancer,genetic disease,gene editing,population genetics |
Contacts
| Course organiser | Dr Luke Boulter
Tel: 0131 332 2471
Email: Luke.Boulter@ed.ac.uk |
Course secretary | Miss Debbie Grahames
Tel: (0131 6)50 3160
Email: debbie.grahames@ed.ac.uk |
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