This module aims to provide an understanding of the organisation of the human genome, how disease genes are mapped and how mutations are identified leading to the development of diagnostic tests. The impacts of massively parallel next generation DNA sequencing, microarrays and SNP genotyping on gene discovery and disease diagnosis are examined. The application of modern genetic techniques to identifying susceptibility genes for complex, multifactorial traits will also be studied. A range of diseases will be examined in detail both in lectures and in case study workshop sessions. The final lecture looks at gene therapy and considers the future for treatment of genetic disorders. The practical session aims to give students an opportunity to study their own DNA in a forensics scenario, using techniques that are widely applicable in modern molecular genetics.