PATH30060 Genetics, Perinatal and Paediatric Diseases

Academic Year 2023/2024

This course examines the role genetics plays in disease and explores the microbiological, pharmacological and pathological basis of common congenital and childhood conditions. The molecular basis of inherited diseases and chromosomal disorders will be explored as well as genetic susceptibility to common diseases and the role of genetic variation in responsiveness to drugs. Approaches to diagnosis of genetic disorders, carrier detection and gene therapy will also be covered. In addition this module examines clinical features and prevention of common congenital and childhood infections and the pathology associated with common perinatal and paediatric conditions. This module forms part of the core curriculum for the MBBChBAO degree in medicine.

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Curricular information is subject to change

Learning Outcomes:

On completion of this module students should have improved their biomedical and knowledge by being able to:-
1.Describe the mechanisms and consequences of abnormalities of chromosome number and structure and evaluate the role of epigenetics in disease
2. Recognise inheritance patterns and perform basic risk calculations for family members
3. Demonstrate how variants in single genes cause genetic disease
4. Apply basic molecular tools to carrier detection and diagnosis of genetic disorders and review issues that should be considered for a gene therapy approach to treatment
5. Discuss genetic and environmental contribution to common diseases
6. Describe how genetic variability can alter responsiveness to drugs
7. Describe the main clinical features of common congenital and childhood infections
8. Describe the pathology of sudden infant death and other common perinatal and paediatric conditions.
9. Describe the processes of development which teratogens disrupt to cause foetal malformations

Students should also have improved their clinical skills by being able to:-
1. Predict a pattern of inheritance for a genetic disorder in a family and communicate the risks associated with this
2. Consider the issues surrounding genetic counselling
3. Evaluate genetic screening approaches
4. Discuss the preventative strategies currently used in the control of common congenital and childhood infections

Student Effort Hours: 
Student Effort Type Hours






Specified Learning Activities


Autonomous Student Learning




Approaches to Teaching and Learning:
The key teaching and learning approaches used in this module include online lectures, clinical seminars, small group case based tutorials and independent reading. 
Requirements, Exclusions and Recommendations
Learning Requirements:

Students are required to have a background in human physiology and biochemistry and to have studied the Mechanisms of Disease (Med) and Molecular Basis of Life modules or modules with equivalent learning outcomes.

Learning Recommendations:

All students taking this module as an elective should contact the module co-ordinator in advance of registering.

Module Requisites and Incompatibles
PATH30080 - Disease Mechanisms & Pharmacol

PHAR40040 - Emerging therapies

Genetics,perinatal,paediatric (MDSA30020)

Assessment Strategy  
Description Timing Open Book Exam Component Scale Must Pass Component % of Final Grade In Module Component Repeat Offered
Continuous Assessment: Online Assignment Varies over the Trimester n/a Graded No


Examination: MCQ 1 hour End of Trimester Exam No Graded No



Carry forward of passed components
Resit In Terminal Exam
Autumn Yes - 1 Hour
Please see Student Jargon Buster for more information about remediation types and timing. 
Feedback Strategy/Strategies

• Group/class feedback, post-assessment

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