PATH10200 Basic Principles of Genetics

Academic Year 2020/2021

This is a first year module forming part of the core curriculum for foundation year medical students and BSc Biomedical Health & Life Sciences students. It focuses on the basic principles of genetics with relevance to clinical diseases, including case demonstrations and simulations.

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Curricular information is subject to change

Learning Outcomes:

On successful completion of this module, students will be able to:1.Explain the involvement of genetics in cellular and individual diversity.2.Understand basic chromosome biology, and the common clinical chromosome disorders3.Understand typical and atypical mechanisms of disease inheritance, with examples 4.Understand basic molecular genetics, and the principles of diagnostic genetic testing5.Appreciate the impact of genetic disease on families6.Understand the principles of polygenic inheritance, with examples7.Appreciate the causes of congenital malformations8.Appreciate the principles of cloning human disease genes9.Appreciate the impact of the human genome project on medicine

Indicative Module Content:

Module Lecture/ tutorial list
Introduction to Medical Genetics
Basic cytogenetics
Clinical cytogenetic disease
Basic Molecular Genetics
Autosomal Dominant inheritance
Autosomal recessive inheritance
X linked disorders
Triplet repeat disorders
Haemoglobinopathies
Diagnostic Molecular Genetics
Cancer genetics
Congenital anomalies
Biochemical Genetics
Molecular cytogenetics
Genetic imprinting
Mid term formative assessment
Polygenic disease
Clinical Genetics
Cloning a disease gene
Neurofibromatosis - the patient experience
Population Genetics and risk calculation
Genetic counselling
Clinical Symposium Haemochromatosis 2-3 speakers
Genetic counselling - demonstration
Gene therapy
Ethical Issues in genetics
Genetics in the future
Revision
Exit exam

Student Effort Hours: 
Student Effort Type Hours
Lectures

27
Tutorial

3
Specified Learning Activities

30
Autonomous Student Learning

60
Total

120
Approaches to Teaching and Learning:
Active/task-based learning; peer and group work;
lectures
Reflective learning
Debates and case-based learning
Patient presentations, etc. 
Requirements, Exclusions and Recommendations
Learning Exclusions:

MDCS10020 - if you have taken this module previously, you cannot register for MDSA10200


Module Requisites and Incompatibles
Equivalents:
Medical Genetics (MDSA10200)


 
Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade
Group Project: Group Work Unspecified n/a Graded No

25
Examination: Exit Exam
MCQ & Short answer Question		 2 hour End of Trimester Exam No Graded No

75

Carry forward of passed components
No
 
Resit In Terminal Exam
Autumn Yes - 2 Hour
Please see Student Jargon Buster for more information about remediation types and timing. 
Feedback Strategy/Strategies

• Group/class feedback, post-assessment

How will my Feedback be Delivered?

There will be an in course group exercise. Group/class feedback will be given, post-assessment

Name Role
Professor Bill Watson Lecturer / Co-Lecturer