Postgraduate Course: Germline Mutations and Human Disease (MCLM11055)
Course Outline
| School | Deanery of Molecular, Genetic and Population Health Sciences |
College | College of Medicine and Veterinary Medicine |
| Credit level (Normal year taken) | SCQF Level 11 (Postgraduate) |
Availability | Not available to visiting students |
| SCQF Credits | 10 |
ECTS Credits | 5 |
| Summary | Aims of the course:
1. To facilitate the development of an in-depth understanding of the different mechanisms by which mutations exert their effect both for causative mutations in high penetrance monogenic diseases and for low penetrance polymorphisms in common disease.
2. To be enable the student to critically appraise the role of mutation analysis in the context of Clinical Genetics and patient care. |
| Course description |
This course aims to provide students with a detailed understanding of the link between genetic variation and human disease, both in the case of rare high penetrance mutations and in the case of common polymorphisms as a predisposition to common disease. The course will also explore how genetic testing contributes to the clinical care of patients, and the role of testing in determining patient treatment.
The course will be structured into the following topics:
1. Introduction to the course
2. The common disease-common variant hypothesis and penetrance as the core concept linking rare genetic disease and common disease
3. Genetic analysis of developmental disorders, mechanisms of action of mutation and the de-novo paradigm for causation of rare disease
4. The concept of pharmacogenomics and personalised medicine, critically appraising its strength¿s and limitations, using real-life examples
5. Communicating complex genetic information to patients including the ethical and social implications of genetic testing
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Entry Requirements (not applicable to Visiting Students)
| Pre-requisites |
|
Co-requisites | |
| Prohibited Combinations | |
Other requirements | None |
Course Delivery Information
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| Academic year 2017/18, Not available to visiting students (SS1)
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Quota: None |
| Course Start |
Flexible |
Timetable |
Timetable |
| Learning and Teaching activities (Further Info) |
Total Hours:
100
(
Lecture Hours 2,
Seminar/Tutorial Hours 4,
Online Activities 8,
Feedback/Feedforward Hours 4,
Formative Assessment Hours 3,
Programme Level Learning and Teaching Hours 2,
Directed Learning and Independent Learning Hours
77 )
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| Assessment (Further Info) |
Written Exam
0 %,
Coursework
100 %,
Practical Exam
0 %
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| Additional Information (Assessment) |
Written Exam - 0%«br /»
Coursework - 100%«br /»
Practical Exam - 0%«br /»
|
| 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:
- Demonstrate a critical understanding of the principle mechanisms by which genetic variation causes disease, and the limitations of current models
- Critically apply this knowledge to different clinical scenarios relating to both rare genetic and common multifactorial disease
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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. Example texts are given below.
Strachan T, Goodship J and Chinnery P. Genetics and Genomics in Medicine. Garland Science 2014. Print ISBN-10: 0815344805
Strachan T and Read A. Human Molecular Genetics 4th Ed. Garland Science 2010. Print ISBN-10: 0815341490
Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062.
Picard N, Boyer JC, Etienne-Grimaldi MC, Barin-Le Guellec C, Thomas F, Loriot MA; French National Network of Pharmacogenetics (RNPGx). Pharmacogenetics-based personalized therapy: Levels of evidence and recommendations from the French Network of Pharmacogenetics (RNPGx). Therapie. 2017 Jan 30. pii: S0040-5957(17)30006-9. doi: 10.1016/j.therap.2016.09.014.
Familial Hypercholesterolaemia. Genereviews. https://www.ncbi.nlm.nih.gov/pubmed/24404629
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Additional Information
| Graduate Attributes and Skills |
Not entered |
| Keywords | Molecular Pathology,Genetics,Genomic Medicine |
Contacts
| Course organiser | Dr Amy Hansen
Tel: (0131 6)51 8757
Email: Amy.Hansen@ed.ac.uk |
Course secretary | Mrs Alison Kyte
Tel: (0131 6)51 1041
Email: Alison.Kyte@igmm.ed.ac.uk |
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