module specification

This module builds on the knowledge and understanding developed at level 4, through the module Cell Biology. It will also be underpinned by topics covered in the module entitled “Molecular Biology”. In this module specific diseases will be used to illustrate genotype/phenotype relationships. The module will address the application of current knowledge to clinical practice in the NHS and will examine how a family with affected offspring, would be counselled.

The aims of this module are aligned with the qualification descriptors within the Quality Assurance Agency’s, Framework for Higher Education Qualifications. The module aims to help students develop their understanding of genetic mutations and how they relate to human disease. It will enable students to relate disease phenotype to mutations in gene products or aberrations in gene expression. The module develops an understanding of how human biology has been enriched through the huge increase of genetic data now available. The lectures and practicals enable students to appreciate how these data have allowed the development of novel therapeutic strategies, predictive testing and illustrate how an affected family may be counselled with respect to their inherited condition, in the UK NHS. This module aims to provide students with the qualities and transferable skills necessary for employment requiring: the exercise of initiative and personal responsibility; decision-making in complex and unpredictable contexts; and, the learning ability needed to undertake appropriate further training of a professional or equivalent nature.

The human genome; disease loci and detection; gene structure and function. Review of Mendelian principles: complications of Mendelian inheritance, epigenetics. Chromosomal basis of disease: karyotyping and clinical cytogenetics.

Haemoglobinopathies; biochemical genetics; multifactorial inheritance of complex disorders; cancer genetics; primary immunodeficiencies and epigenetics

Predictive testing, preimplantation diagnosis, modern genetic therapies and genetic counselling. (LO1-3)

Students will be provided with the opportunity to acquire knowledge and understanding of medical genetics through a variety of teacher led activities and self-directed study. Tutor led activities will include traditional and interactive lectures, problem solving tutorials and laboratory practical classes. Theoretical and practical problems will be employed to assist students in the development of their analytical and problem solving capabilities. Students' ability to handle and interpret information will be encouraged through laboratory practical and reading of additional literature on the subject, video material and other learning resources.

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

1. Critically evaluate the relationship between genotype and phenotype of a range of hereditary diseases;

2. Assess how understanding, treatment and management of genetic diseases has been advanced through research;

3. Appraise the application of commonly used laboratory techniques to the detection of genetic disease, and the use of predictive genetic testing and genetic counselling in a UK NHS setting.

https://londonmet.rl.talis.com/lists/70EC001C-0973-DFF9-F7C0-F9C65753883D.html