module specification

This module builds on the knowledge and understanding developed at level 4, through the module Cell and Molecular Biology. It will also be underpinned by topics covered in the corequisite module entitled “Molecules of Heredity and Defence”. 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.

Prerequisite: AS4003, corequisite AS5005 or BS5002

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; 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

Predictive testing, preimplantation diagnosis, modern gene therapy and genetic counselling.
PID and epigenetics
 

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. Evaluate the  genetic basis of a range of hereditary diseases;
2. Critically evaluate how changes in gene structure or expression cause disease phenotype, with
3. named examples;  
4. Assess how understanding of genetic diseases has been advanced through research including the use of animal models and has informed the development of gene therapy;
5. Appraise the application of predictive genetic testing and genetic counselling in a UK NHS setting;
6. Evaluate the application of commonly used laboratory techniques to the detection of selected genetic diseases.
    

The module will be summatively assessed by the completion of a 1000 word practical report (30%) and by two in-class tests; 1 hour at 20% (1000 words) and 2 hours at 40% (2000 words); each comprising short answer questions. A formative progress test will be used to provide feedback on performance.
To pass the module students must achieve a minimum aggregate mark of 40%.

Fletcher H.L., Hickey G.I. and Winter P.C. (2006) Instant Notes in Genetics (3rd edit). βios.
Jorde L.B., Carey J.C. and Bamshad M.J. (2010).  Medical Genetics (4th edit). Mosby.
Read A. and Donnai D. (2010) New Clinical Genetics (2nd edit). Scion.
Tobias E S., Connor M and Ferguson Smith M (2011) Essential Medical Genetics. (6th edit.) Wiley Blackwell.
Turnpenny P and Ellard S MD (2011) Emery’s Elements of Medical Genetics. (14th edit.) Churchhill Livingstone.
Young I.D. (2010). Medical Genetics. (1st edit.) Oxford University Press.