This module aims to evaluate the use of molecular tools in the diagnosis of inherited and acquired genetic diseases. The module will focus on the application of modern and emerging technologies in the molecular diagnostic laboratory and aims to develop a critical awareness in the student of the technologies available and the application of those technologies to the detection and diagnosis of genetic alterations.
The types and effects of mutations causing genetic diseases.
A selection of genetic diseases will be reviewed, focusing on the gene(s) involved, causative mutations, the effects of the mutations on protein function and the challenges involved in detecting the mutations.
Molecular technologies reviewed will include but are not limited to;
PCR,
ARMS PCR,
PCR / RFLP
quantitative real time PCR,
Real-time probe and dye chemistries and applications
Sanger DNA sequencing
next generation sequencing - whole genome sequencing, transcriptome / exome sequencing and targeted panel sequencing
Microarray analysis – gene expression arrays, CGH arrays, methylation arrays, protein arrays
Isothermal amplification methodologies
POC DNA detection technologies
A series of practical laboratory sessions will be undertaken to complement the theoretical aspects of the module.
Lectures / tutorials
Student-directed reading and on-line education.
Laboratory practicals
| Module Content & Assessment | |
|---|---|
| Assessment Breakdown | % |
| Formal Examination | 60 |
| Other Assessment(s) | 40 |