School of Biological and Chemical Sciences

Human Genetic Disorders

Module code: BIO227

Credits: 15.0
Semester: SEM1

  • Semester 1: Thursday 9 am - 11 am
  • Semester 1: Weeks 2, 3, 8, 11: Tuesday 2 pm - 4 pm
  • Semester 1: Weeks 2, 3, 8, 11: Tuesday 4 pm - 6 pm

Contact: Dr Jayne Dennis
Overlap: None
Prerequisite: BIO163

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.

Connected course(s): UDF DATA
Assessment: 75.0% Examination, 25.0% Coursework
Level: 5