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BGM3060 : Diagnostic Medical Genetics

  • Offered for Year: 2023/24
  • Module Leader(s): Professor Gavin Hudson
  • Co-Module Leader: Dr Joanna Elson, Dr Richard Martin
  • Lecturer: Prof. Sir John Burn, Professor Michela Guglieri, Dr Marta Bertoli, Dr Colin Miles, Dr Michael Wright, Mr Gareth Breese, Ms Claire Schwab
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus

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


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
Guided Independent StudyAssessment preparation and completion21:002:00Practical reports.
Scheduled Learning And Teaching ActivitiesLecture201:0020:00In person
Scheduled Learning And Teaching ActivitiesPractical22:004:00In person
Guided Independent StudyIndependent study1174:00174:00Writing up lecture notes, revision and general reading.
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.

Assessment Methods

The format of resits will be determined by the Board of Examiners

Description Length Semester When Set Percentage Comment
Written Examination1202A70In person invigilated exam. 2 out of 4 essays.
Other Assessment
Description Semester When Set Percentage Comment
Computer assessment1M3090 min invigilated mid semester online quiz assessing lecture and practical content.
Assessment Rationale And Relationship

The written paper tests the student's knowledge base, 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