PATH10200 Basic Principles of Genetics

PATH10200 Basic Principles of Genetics

PATH10200 Basic Principles of Genetics 150 150 Peter

PATH10200 Basic Principles of Genetics

Academic Year 2021/2022

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.

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 disorders3.Understand typical and atypical mechanisms of disease inheritance, with examples 4.Understand basic molecular genetics, and the principles of diagnostic genetic testing5.Appreciate the impact of genetic disease on families6.Understand the principles of polygenic inheritance, with examples7.Appreciate the causes of congenital malformations8.Appreciate the principles of cloning human disease genes9.Appreciate the impact of the human genome project on medicine

Indicative Module Content:

Module Lecture/ tutorial list
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
Mid term formative assessment
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
Revision
Exit exam

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