Biomedical Science Single Honours (Level 2)
The field of Human Genetics is growing rapidly in the post genomic age and this module aims to sample some of the key topics. It will demonstrate the predictable behaviour of genes at the levels of the individual and the population (Mendelian and population genetics), whilst making students aware that the nature of human societies means that sometimes genes don't appear to behave as predicted! There will be an emphasis on medical genetics, showing how a person's genetic make-up can directly or indirectly affect their health and exploring some of the applications of molecular genetics in the study of, diagnosis of and treatment of genetic diseases. We shall also consider some of the ethical implications of advances in genetic technologies. A variety of teaching methods will be used including lectures, interactive problem solving workshop sessions, computer-based self research and tutorials.
Topic 1 Inheritance Patterns in Humans. (Sessions 1 - 3)
This topic includes revision of meiosis and classical mendelian genetics, molecular pathology (the basis for dominance and recessivity), genetic and environmental influences on phenotype, human genetic elements, and patterns of mendelian and non-mendelian inheritance in humans.
Topic 2 Quantitative and Population Genetics (Session 4)
This topic gives a brief introduction to population and quantitative genetics and includes the Hardy-Weinberg Law, calculation of gene frequencies and heritability.
Topic 3 Clinical Applications of Genetics (Sessions 5 to 10)
This topic examines the types of genetic diseases that affect humans (eg single gene, multigene, multifactorial, chromosome abnormalities and somatic disease) and how molecular genetics has revolutionised diagnosis and treatment in medical genetics.
Interpret the family information displayed in pedigree diagrams and construct pedigree diagrams from textual family histories. 1, 3
Apply the rules of population genetics to calculate gene frequencies and genetic risk. 1, 3
Explain the importance of quantitative genetics in the study of complex human diseases and traits (twin studies etc) and calculate the heritability of multifactorial traits. 1, 3
Explain how molecular genetics can be applied in the diagnosis and treatment of disease and be able to interpret diagnostic test results. 1, 2, 3
Give examples of inherited and acquired genetic diseases and demonstrate critical understanding of how the genetic or chromosomal defects may have been generated. 1, 3
Access and extract information from online databases (OMM). 1
Calculate genetic risk for fully penetrant and incompletely penetrant traits. 1, 3
Discuss some of the ethical issues involved in modern genetic medicine. 1
Workshops 8 hours (problem solving, database searching etc)
Tutorials 3 hours
Homework 10 hours (directed study, problem solving)
Private study 117 hours (included directed and non directed reading, preparation of in course assessment and preparation for examination)
Comprising short answer questions (such as calculations, problem solving, interpretation of diagrams etc). Student should attempt all questions.
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