BMD3024 : Rare Diseases: Genetic Variants to Physiological Function & Therapies (Inactive)
- Inactive for Year: 2025/26
- Module Leader(s): Dr Katarzyna Pirog
- Co-Module Leader: Dr Helen Phillips
- Lecturer: Professor Sophie Hambleton, Dr Uwe Richter, Dr Janet Kerwin, Miss Esther Fernández-Simón, Professor Lyle Armstrong, Dr Steven Lisgo, Miss Victoria Hedley, Professor Majlinda Lako, Dr Matthew Leach, Dr Michael Gray, Ms Becca Leary, Professor John Sayer
- 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 aims of this module are:
- to provide an overview of early vertebrate development
- to describe in more detail the development of several organ systems
- to identify key developmental processes and the genes and genetic pathways that are involved
- to consider the role of developmental genes in genetic disorders
- to discuss modern therapeutic approaches (gene therapy, drug repurposing)
Outline Of Syllabus
Many human disorders have a developmental or genetic origin and knowledge of the processes underpinning organ development and function is an important step towards understanding gene function and disease mechanisms. As the normal and abnormal development of a range of model organisms is analysed as part of studies of gene function, this module will include information from several species, although it is focused on vertebrate development.
The module will provide an overview of key concepts in vertebrate development and a framework for understanding developmental and genetic research and its role in underpinning research on human genetic disorders, focusing specifically on rare diseases and rare disease research.
The module syllabus will include:
- establishment of the basic body plan
- establishment and breaking of symmetry
- involvement of endoderm, mesoderm and ectoderm in development of organs and tissues
- genetic origins of rare diseases
- genotype to phenotype and using models to understand disease mechanisms
- from mechanism to therapy: gene therapy, genetic manipulation, drug repurposing, tissue engineering and other
approaches to treatment of rare diseases
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Scheduled Learning And Teaching Activities | Lecture | 19 | 1:00 | 19:00 | Lecture material |
| Guided Independent Study | Assessment preparation and completion | 20 | 1:00 | 20:00 | Generation of a final PowerPoint presentation |
| Guided Independent Study | Assessment preparation and completion | 20 | 1:00 | 20:00 | Generation of research paper. |
| Scheduled Learning And Teaching Activities | Practical | 1 | 4:00 | 4:00 | Working through online expression/development database |
| Scheduled Learning And Teaching Activities | Small group teaching | 1 | 1:30 | 1:30 | Workshop/seminar on ethics |
| Guided Independent Study | Independent study | 1 | 135:30 | 135:30 | |
| Total | 200:00 |
Teaching Rationale And Relationship
Lecture materials will provide the majority of the knowledge base and should stimulate the students to reflect and do further reading (independent study). Further independent study materials (videos, research papers, online links) will be provided on Canvas to supplement the course.
Workshops will expose the students to ethical concerns surrounding use of animals and human tissues in research
and provide the key foundation for generation of the in course assessed research paper which they will complete as guided independent study.
Assessment Methods
The format of resits will be determined by the Board of Examiners
Other Assessment
| Description | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|
| Research paper | 1 | M | 50 | Written exercise, arising from use of developmental databases, 1,500 words maximum. |
| Oral Presentation | 1 | M | 50 | Group presentation of a genotype to phenotype correlation and treatment avenues for a disease set by module leaders (up to 15 minutes) |
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 |
|---|---|---|---|
| Computer assessment | 1 | M | Online Canvas quiz containing 5 questions per lecture/tissue/subject, to consolidate knowledge gained in the module |
Assessment Rationale And Relationship
The research paper tests the ability to synthesize data from online resources, allows students to show further in-depth understanding of the topic, and critical evaluation skills
The presentation tests group work, synthesis of lecture material, analysis of research papers and databases in the context of taught material, and critical appraisal of data
The formative assessment in the form of online Canvas quiz helps consolidate the lecture material and links the different tissues, organs and signalling pathways together, to enable the student to see a bigger picture of correlations between different rare diseases and disease mechanisms
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BMD3024's Timetable