PATH30060 Genetics, Perinatal and Paediatric Diseases
Academic Year 2021/2022
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.
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 mutations 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
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