BGM3060 : Diagnostic Medical Genetics
- Offered for Year: 2024/25
- Module Leader(s): Dr Colin Miles
- Lecturer: Professor Michela Guglieri, Mr Gareth Breese, Dr Richard Martin, Prof. Sir John Burn, Dr Joanna Elson, Dr Marta Bertoli, Professor Anthony Moorman, Dr Michael Wright
- 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:
1. Introduce the fundamental principles of the genetic diagnosis of a range of human diseases and how this relates to clinical practice.
2. Describe the human karyotype and how chromosomes behave during cell division.
3. Demonstrate how chromosome abnormalities and genetic variation occur and how this relates to the onset and inheritance of human disease.
4. Familiarise the student with the methods and techniques used to identify, characterise/classify a range of genetic mutations in the context of human disease.
5. Provide an opportunity for students to interpret genetic mutations and their impact on human health.
Outline Of Syllabus
This module will introduce and describe the fundamental processes used to diagnose human disease. The lectures and seminars in this module will cover the underlying genetic causes, inheritance, and impact of genetic variation on a range of human diseases, whilst exploring the techniques used to identify and classify this genetic variation.
Specifically, the lectures and seminars will cover the flowing topics:
• The principles of clinical genetic diagnostics and its implementation.
• Structural chromosomal abnormalities and their impact on human disease (e.g. Cancer, Duchenne muscular dystrophy and Fragile X).
• Fundamental and evolving methodologies/techniques that are utilised to diagnose, assess, and characterise human genetic disease.
• Clinical interpretation of genetic data and how this impacts human disease, genetic counselling and the ethical concerns related to this type of data.
• The complex relationship between genetic variation and disease phenotypes.
• The role that mitochondria and mitochondrial DNA play in human disease.
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Scheduled Learning And Teaching Activities | Lecture | 20 | 1:00 | 20:00 | PIP |
| Guided Independent Study | Assessment preparation and completion | 1 | 1:00 | 1:00 | Practical reports. |
| Scheduled Learning And Teaching Activities | Practical | 2 | 2:00 | 4:00 | PIP |
| Scheduled Learning And Teaching Activities | Workshops | 1 | 2:00 | 2:00 | PIP |
| Guided Independent Study | Independent study | 1 | 173:00 | 173:00 | Writing up lecture notes, revision and general reading. |
| Total | 200:00 |
Teaching Rationale And Relationship
The lectures will be used to introduce the material on the course and deliver the bulk of the knowledge required, so that students can meet the learning outcomes.
The practicals will be used to reinforce the material, methodologies and ideas covered on the course and to offer students experience of realistic case-handling scenarios.
The seminar/workshop will reinforce the material covered in the course, particular the technologies and methods used in the genetic diagnostics.
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Written Examination | 120 | 2 | A | 70 | In person invigilated exam. 2 out of 4 essays. |
Other Assessment
| Description | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|
| Computer assessment | 1 | M | 30 | 90 min invigilated mid semester online quiz assessing lecture and practical content. |
Assessment Rationale And Relationship
The exam essay tests the student's knowledge, comprehension and ability to discuss the subject knowledge critically.
The practical quiz is a computer exercise that will test students on their understanding and ability to use their knowledge to critically evaluate and interpret data as discussed during the practical sessions.
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BGM3060's Timetable