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Module

MMB8030 : Genetic Medicine

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

Aims

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

Please note that module leaders are reviewing the module teaching and assessment methods for Semester 2 modules, in light of the Covid-19 restrictions. There may also be a few further changes to Semester 1 modules. Final information will be available by the end of August 2020 in for Semester 1 modules and the end of October 2020 for Semester 2 modules.

Teaching Activities
Category Activity Number Length Student Hours Comment
Structured Guided LearningLecture materials181:0018:00Non-synchronous online; pre-recorded
Guided Independent StudyAssessment preparation and completion301:0030:00Preparation for Group Exercise
Scheduled Learning And Teaching ActivitiesPractical12:002:00Present in person: genome browsers
Scheduled Learning And Teaching ActivitiesPractical13:003:00Present in person: genome browsers
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00Present in person: seminars - see topics below
Scheduled Learning And Teaching ActivitiesSmall group teaching14:004:00Present in person: Case studies
Guided Independent StudyIndependent study651:0065:00Preparing notes from sessions and reading
Guided Independent StudyIndependent study581:0058:00Interpretation of genetic diagnoses and genetic counselling considerations prep and follow-up work
Guided Independent StudyIndependent study118:0018:00Additional Reading and Reflective Learning
Total200:00
Teaching Rationale And Relationship

Pre-recorded lectures supported by person-to-person discussions, tutorials and seminars 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-based 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

Please note that module leaders are reviewing the module teaching and assessment methods for Semester 2 modules, in light of the Covid-19 restrictions. There may also be a few further changes to Semester 1 modules. Final information will be available by the end of August 2020 in for Semester 1 modules and the end of October 2020 for Semester 2 modules.

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

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 (1500 words)
Written exercise1A60Two essay questions (take home) to assess wider understanding of the broad concepts covered in the Module (2000 words total).
Assessment Rationale And Relationship

The essay questions 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 (written exercise) will test understanding and interpretation of gene structure data.

Reading Lists

Timetable