PATH10200 Basic Principles of Genetics

Academic Year 2024/2025

This is a first year module forming part of the core curriculum for Stage I medical students, and BSc Biomedical Health & Life Sciences (BHLS) 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 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 impact of the human genome project on medicine
9. 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
Cystic Fibrosis (CF) - the patient experience
Population Genetics and risk calculation
Genetic counselling
Clinical Symposium Haemochromatosis
Genetic counselling - demonstration
Gene therapy
Ethical Issues in genetics
Genetics in the future

Student Effort Hours: 
Student Effort Type Hours
Lectures

23
Tutorial

2
Specified Learning Activities

30
Autonomous Student Learning

60
Total

115
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  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade
Group Work Assignment: The Class are divided into groups of 4/5, each given a specific Clinical presentation. Working as an MDT, the group submit a Patient Information Leaflet (PIL), comprehensive for a reading age of 12. n/a Graded No

25
Exam (In-person): 2 hour End of Trimester Exam-MCQ n/a 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
Assoc Professor Paula Byrne Lecturer / Co-Lecturer
Dr Sean Ennis (Not In Use) Lecturer / Co-Lecturer
Professor Andrew Green Lecturer / Co-Lecturer
Professor Brendan Loftus Lecturer / Co-Lecturer
Professor Bill Watson Lecturer / Co-Lecturer