MMB8030 : Genetic Medicine
- Offered for Year: 2019/20
- Module Leader(s): Dr Colin Miles
- Lecturer: Dr Ian Logan, Dr Mauro Santibanez Koref, Professor John Sayer, Prof. Sir John Burn, Dr Michela Guglieri, Dr Michael Jackson, Dr Marta Bertoli, Professor David Elliott, Dr Lorraine Cowley, Dr Simon Ramsbottom, Professor Jelena Mann, Dr Simon Zwolinski, Professor Mary Herbert, Mr Gareth Breese, Dr David Bourn
- Owning School: FMS Graduate School
- Teaching Location: Newcastle City Campus
|Semester 1 Credit Value:||20|
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.
|Guided Independent Study||Assessment preparation and completion||30||1:00||30:00||Preparation for Group Excercise - includes 12 hours set aside for group learning|
|Scheduled Learning And Teaching Activities||Lecture||18||1:00||18:00||Lectures|
|Scheduled Learning And Teaching Activities||Practical||3||2:00||6:00||Practical Session|
|Scheduled Learning And Teaching Activities||Practical||1||3:00||3:00||Practical session|
|Scheduled Learning And Teaching Activities||Practical||1||1:00||1:00||Practical Session|
|Scheduled Learning And Teaching Activities||Small group teaching||2||2:00||4:00||Seminars|
|Guided Independent Study||Independent study||15||1:00||15:00||Additional Reading and Reflective Learning|
|Guided Independent Study||Independent study||65||1:00||65:00||Revision for Examination|
|Guided Independent Study||Independent study||58||1:00||58:00||Preparing 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.
The format of resits will be determined by the Board of Examiners
|Written Examination||60||1||A||60||Unseen exam consisting of one compulsory question that tests interpretation and a choice of essay questions.|
|Prof skill assessmnt||1||M||20||Group analysis of the potential clinical implications of novel chromosomal abnormalities are presented (30 mins per group)|
|Written exercise||1||M||20||Written 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.