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MMB8030 : Genetic Medicine

  • Offered for Year: 2020/21
  • Module Leader(s): Dr Colin Miles
  • Lecturer: Dr David Bourn, Dr Michela Guglieri, Dr Mauro Santibanez Koref, Professor John Sayer, Prof. Sir John Burn, Dr Lorraine Cowley, Dr Michael Jackson, Dr Marta Bertoli, Professor David Elliott, Professor Mary Herbert, Dr Simon Ramsbottom, Professor Jelena Mann, Dr Simon Zwolinski, Mr Gareth Breese
  • Owning School: FMS Graduate School
  • Teaching Location: Newcastle City Campus
Semester 1 Credit Value: 20
ECTS Credits: 10.0


The primary aims of the module are as follows:

1. to consolidate knowledge of genetic information processing and inheritance patterns of human genetic disease

2. to introduce the wide variety of mutational mechanisms underlying disease phenotypes, and the detection mechanisms used to identify them

3. to introduce high throughput mutation detection techniques and in silico representations of human genome data

4. to introduce the dynamics of clinical consultations and develop an understanding of ethical and confidentiality issues within this setting

Outline Of Syllabus

The module will consider:

•       information processing within the cell

•       Epidemiology of heritable disease and patterns of inheritance using clinical examples.

•       Chromosome analysis including antenatal diagnosis.

•       Molecular diagnostic techniques including next generation DNA sequencing and mutation scanning.

•       Genome browsers and gene specific PCR assay design

•       Unusual patterns of inheritance - Imprinting, Mosaicism and Mitochondrial disorders, Unstable repeat disorders.

•       Genomic Disorders and techniques for copy number detection.

•       Cancer Genetics: Hereditary vs. sporadic cancer.

•       Clinical Consultation skills - pedigree analysis,risk calculations and clinical ethics.

•       Gene therapy: principles and future prospects.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Scheduled Learning And Teaching ActivitiesLecture181:0018:00Lectures
Guided Independent StudyAssessment preparation and completion301:0030:00Preparation for Group Excercise - includes 12 hours set aside for group learning
Scheduled Learning And Teaching ActivitiesPractical32:006:00Practical Session
Scheduled Learning And Teaching ActivitiesPractical13:003:00Practical session
Scheduled Learning And Teaching ActivitiesPractical11:001:00Practical Session
Scheduled Learning And Teaching ActivitiesSmall group teaching22:004:00Seminars
Guided Independent StudyIndependent study151:0015:00Additional Reading and Reflective Learning
Guided Independent StudyIndependent study651:0065:00Revision for Examination
Guided Independent StudyIndependent study581:0058:00Preparing Notes from Lectures and Reading
Teaching Rationale And Relationship

Interactive lectures will provide the students with basic knowledge, encourage them to explore further concepts and be the platform for private study. The seminars will introduce pedigree drawing and interpretation skills, together with an appreciation of the dynamics of clinical consultation and associated ethical issues, in a group format which mimics working practices. Practical sessions will familiarise the students with interpretation of laboratory data, including the tools currently used for analysis of sequencing and microarray data, and will foster their ability to interpret diagnostic tests and develop critical appraisal skills. In other practical sessions students will use genome browsers and design gene specific PCR assays.

Assessment Methods

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

Description Length Semester When Set Percentage Comment
Written Examination601A60Unseen exam consisting of one compulsory question that tests interpretation and a choice of essay questions.
Other Assessment
Description Semester When Set Percentage Comment
Prof skill assessmnt1M20Group analysis of the potential clinical implications of novel chromosomal abnormalities are presented (30 mins per group)
Written exercise1M20Written report outlining structure and molecular consequences of a hypothetical balanced translocation (2000 words)
Assessment Rationale And Relationship

The unseen written paper will test the student’s knowledge base, comprehension and ability to discuss the subject critically. The group presentation will test the students’ ability to use on-line databases to find and interpret clinical information generated by the latest technologies, while the practical assessment will test understanding and interpretation of gene structure data.

Reading Lists