The unifying topic of “Introduction to Human Genetics” is how genes and their interactions, either with other genes or with the environment, make us what we are. The module will introduce you to the subject of human genetics, enable you to appreciate the implications of genetic research for society and provide a basis for more advanced studies. At the end of the module, you should be able to understand and critically evaluate scientific studies in human genetics, whether reported in scientific journals or in the lay press.

Learning objectives

On successful completion of the module, a student will be able to:

Understand how Mendelian rules of inheritance can be applied to human families. Analyse pedigree data and interpret the results.
	Discover the field of cytogenetics. Study aneuploidy and morphology of chromosomes and learn how to identify chromosomal abnormalities.
	Compare and explain the different molecular tools we use in the field of human genetics. Understand the nature and origin of human genetic variation and explore the study of inborn errors of metabolism.
	Understand gene-mapping tools for both Mendelian and complex human diseases. Compare and examine both methods with examples. Perform and interpret linkage analyses and appreciate complex inheritance and heritability studies.
	Describe the genetic mechanics, evolutionary forces and population traits that influence genetic diversity. Appreciate the genetic studies of human populations and human origins.
Structure

In addition to lectures, the module will feature compulsory problem-based learning tutorial-exercises on most topics, including the analysis of human pedigrees, genetic variation and gene mapping. It will also include a debate on modern bioethics and a workshop on bioinformatics.

BIOL0010 is compulsory for students on the Human Genetics and Genetics degrees from the Biological Sciences Degree Programme and assumes a basic background in Mendelian genetics and molecular biology. Subject to class size restrictions, it can be taken as an optional/elective module by students on other Biosciences and Life Sciences related programmes. The module is a prerequisite for the level 6 module BIOL0021 Advanced Human Genetics.