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DRPS : Course Catalogue : Deanery of Molecular, Genetic and Population Health Sciences : Molecular and Clinical Medicine

Postgraduate Course: Introduction to Molecular Pathology and Genomic Medicine (MCLM11056)

Course Outline
SchoolDeanery of Molecular, Genetic and Population Health Sciences CollegeCollege of Medicine and Veterinary Medicine
Credit level (Normal year taken)SCQF Level 11 (Postgraduate) AvailabilityNot available to visiting students
SCQF Credits10 ECTS Credits5
SummaryThis course aims to provide a detailed introduction to the link between genetic variation and human disease, both in the case of rare mutations and common polymorphisms as a predisposition to common disease. Students will build on their understanding of genetic variation as a contributor to cancer development in the second half of the course. This will provide an understanding of the hallmarks and emerging characteristics driving cancer. The course provides the core knowledge required for subsequent courses in the PGCert in Molecular Pathology and Genomic Medicine.

Aims of the course:
1. To develop an understanding of the different mechanisms by which mutations exert their effect both for causative mutations in monogenic diseases and for polymorphisms in common disease.

2. To develop an understanding of the principles of genome stability and carcinogenesis, in the context of Clinical Molecular Pathology.
Course description The course is divided into two conceptual blocks:

1A. Mutations in action - rare genetic disease and population genetics.
1B. Mechanisms of Cancer development - somatic mutation and the hallmarks of cancer.
Entry Requirements (not applicable to Visiting Students)
Pre-requisites Co-requisites
Prohibited Combinations Other requirements None
Additional Costs Purchasing of books, personal computers if not using university facilities.
Course Delivery Information
Academic year 2018/19, Not available to visiting students (SS1) Quota:  None
Course Start Flexible
Timetable Timetable
Learning and Teaching activities (Further Info) Total Hours: 100 ( Lecture Hours 5, Seminar/Tutorial Hours 4, Online Activities 8, Feedback/Feedforward Hours 2, Formative Assessment Hours 4, Summative Assessment Hours 7, Programme Level Learning and Teaching Hours 2, Directed Learning and Independent Learning Hours 68 )
Assessment (Further Info) Written Exam 0 %, Coursework 100 %, Practical Exam 0 %
Additional Information (Assessment) Coursework - 100%

Assessments are designed to be directly relevant to individuals working in the National Health Service, as such they are often modelled on content-specific standardised reports and relevant clinical practice. Assessments utilised to monitor students' progression include participation in online discussions (10%) and a written assignment (90%).
Feedback Students will receive formative or summative feedback on all assessed pieces of work.
No Exam Information
Learning Outcomes
On completion of this course, the student will be able to:
  1. Explain the principle mechanisms by which genetic variation causes disease, and the limitations of current models
  2. Describe the basic principles of genome instability and carcinogenesis
  3. Utilise clinically relevant bioinformatics resources to analyse genetic variants, identify disease causing mutations and predict the impact on patient care
  4. Collaboratively model a multidisciplinary team meeting to evaluate clinical scenarios relating to genetic disease
Reading List
The theory and practice of Molecular Pathology and Genomic Medicine is a very rapidly advancing field, and no single textbook is appropriate or sufficiently up to date. The course will draw on key established textbooks in the field, but will also use review papers and key research papers to ensure the most up to date learning for students.

The following textbooks will provide students with background information on core genetic, genomic and pathology content:

Strachan T and Read A. Human Molecular Genetics 4th Ed. Garland Science 2010.

Strachan T, Goodship J and Chinnery P. Genetics and Genomics in Medicine. Garland Science 2014.

Muir's Textbook of Pathology, Fifteenth Edition, 2014
Additional Information
Graduate Attributes and Skills Not entered
KeywordsMolecular Pathology,Genetics,Genomic Medicine,Genomics,Cancer
Course organiserDr Nick Temperley
Course secretaryMrs Alison Kyte
Tel: (0131 6)51 1041
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