This module explores human hereditary disease in terms of genetics, pathogenesis, clinical features and clinical management. We will look at key examples of chromosomal abnormalities (i.e. Trisomy 21), monogenic disease (e.g. cystic fibrosis, Huntington's disease and Duchenne Muscular Dystrophy) and common disease (e.g. coronary artery disease). Students will be introduced to methods and techniques for identifying genetic loci associated with disease (e.g. homozygosity mapping, genome-wide association studies, DNA sequencing). Finally, we will discuss issues around genetic screening, testing and counselling.

Lists linked to Human Genetic Disorders

Title Sort by title Year Last updated Sort by last updated
BIO227 Human Genetic Disorders 2023-2024 Academic Year 16/08/2023 11:24:16
BIO227 Human Genetic Disorders 2024-2025 Academic Year 13/06/2024 12:23:48