PATH10200 Basic Principles of Genetics

Academic Year 2023/2024

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.

Show/hide contentOpenClose All

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 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
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




Specified Learning Activities


Autonomous Student Learning




Approaches to Teaching and Learning:
Active/task-based learning; peer and group work;
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
Medical Genetics (MDSA10200)

Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade In Module Component Repeat Offered
Examination: Component of 2 hour End of Trimester Exam - SAQ 2 hour End of Trimester Exam No Graded No


Examination: Component of 2 hour End of Trimester Exam - MCQ 2 hour End of Trimester Exam No Graded No


Group Project: Group Work Unspecified n/a Graded No



Carry forward of passed components
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