Teaching Responsibility
LJMU Schools involved in Delivery:
Pharmacy & Biomolecular Sciences
Learning Methods
Lecture
Practical
Workshop
Module Offerings
6110BMBMOL-JAN-CTY
Aims
This module will enable students to develop an in depth understanding of the origins, roles and investigation of genes in disease and the strategies employed for the prevention, diagnosis, treatment and research of the genetic basis of disease.
Learning Outcomes
1.
Demonstrate a reflective understanding of the basis of genetic disease and its investigation.
2.
Use IT skills and digital capability to apply principles of interpretation to genetic data
3.
Critically evaluate the management and treatment of genetic disease.
Module Content
Outline Syllabus:Gain and loss of function mutations, single gene defects, multifactorial conditions, epigenetics, familial and sporadic disease.
Systems covered include: Cardiovascular, Endocrine, Liver, Gut, Renal and Respiratory
Typical examples: sickle cell disease, cystic fibrosis, Duchenne Muscular dystrophy, haemophilia, Fragile X, Huntington's disease, Alzheimer's disease, Parkinson's disease.
Developmental genetics and abnormalities.
Phenotype to genotype and genotype to phenotype. human genome project.
Bioinformatics.
Overview of diagnostic and research techniques including PCR, multiplex assays, blotting techniques, microarrays, FISH.
Approaches to gene therapy and precision medicine.
Module Overview:
This module focuses on the increasingly important topic of medical and clinical genetics and will use real world examples and data analysis techniques used in the field.
This module focuses on the increasingly important topic of medical and clinical genetics and will use real world examples and data analysis techniques used in the field.
Additional Information:This module aims to develop understanding of the contribution of chromosomes and genes to health and disease. A range of disorders will be covered with an introduction to relevant techniques and therapeutic approaches.