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PATH10200

Academic Year 2022/2023

Basic Principles of Genetics (PATH10200)

Subject:
Pathology
College:
Health & Agricultural Sciences
School:
Medicine
Level:
1 (Introductory)
Credits:
5
Module Coordinator:
Professor Bill Watson
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Spring
Mode of Delivery:
On Campus
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Curricular information is subject to change.

Invalid Option 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.

About this Module

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 disorders
3. Understand typical and atypical mechanisms of disease inheritance, with examples
4. Understand basic molecular genetics, and the principles of diagnostic genetic testing
5. Appreciate the impact of genetic disease on families
6. Understand the principles of polygenic inheritance, with examples
7. Appreciate the causes of congenital malformations
8. Appreciate the principles of cloning human disease genes
9. Appreciate the impact of the human genome project on medicine
10. Have an insight into the current genetic techniques and technologies and future developments

Indicative Module Content:

Draft list of Module Lectures
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
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

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
Patient presentations

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 Invalid Option
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade In Module Component Repeat Offered
Examination: Exit Exam
MCQ & Short answer Question		 2 hour End of Trimester Exam No Graded No
75
 No
Group Project: Group Work Unspecified n/a Graded No
25
 No

Carry forward of passed components Invalid Option
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
Dr Sean Ennis (Not In Use) Lecturer / Co-Lecturer
Professor Bill Watson Lecturer / Co-Lecturer
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