Clinical Genetics

On successful completion of this module students should be able to:

1. Explain the principles and practice of genetic testing.
2. Demonstrate an understanding of the experimental basis for our current knowledge of genetic disorders.
3. Explain the nature and effects on the phenotype of numerical and structural changes of chromosomes.
4. Critically evaluate the main molecular biology techniques used to treat disease.

This module will explore the origins and implications of genetic disorders. It will address the principles and procedures involved in screening, diagnosis, treatment, and monitoring of genetic conditions. The associated social and ethical issues will also be debated. The origins and consequences of numerical and structural chromosomal change will be explored, with particular focus on the genetic aspects relevant to reproductive health. The methods used to classify pathogenic mutations will be introduced, along with the repositories used to curate this data.

To provide students an overview of the concepts and methods applicable to clinical genetics.

The module will begin by examining the mechanisms that cause a deviation from the standard karyotype. Meiosis is the primary source of these errors, and the molecular events of this process will be described in detail. Examples of both structural and numerical chromosomal errors will be given, along with the methods used to assay them. The major stages of embryo development will be introduced, with reference to reproductive science. The genetics of blood group inheritance and common blood cancers will be explored. The role of modern genetic tools such as genome sequencing, RNAi, and gene editing, in the management or elimination of genetic conditions will be considered. The role of such technology in regenerative medicine will also be discussed. In seminar sessions the ethical questions that arise from the use of genetic technology in screening and treatment will be discussed. Workshops will focus on the methods used to classify pathogenic mutations and explore the dedicated databases (e.g. ClinVar or gnomAD) that hold this information.

This module is at CQFW Level 6