module specification

This module focuses on human diseases with a genetic component, from monogenic disorders to complex, multifactorial diseases. Consideration is also given to hereditary mechanisms not linked to DNA sequence (e.g. genomic imprinting).

The module aims to provide an appreciation of the genetic basis of inherited diseases and, wherever possible, relate disease phenotype to mutations in gene products or to aberrations in gene expression. The material covered emphasises how an understanding of human biology has advanced through the study of genetic diseases, explores the development of therapeutic strategies using up-to-date primary sources and discusses the latest technological innovations.

Genetic variation in individuals and populations: autosomal dominant and recessive inheritance; sex-linked and mitochondrial inheritance; complexities of inheritance patterns.
Epigenetics and the control of gene expression at varying levels.
Clinical cytogenetics: chromosomal basis of syndromic disease.
Clinical aspects of monogenic and multifactorial inheritance: disorders of metabolism, haemoglobinopathies and other common diseases.
Selected specialist topics including developmental genetics, cancer genetics, immunogenetics.

Students will be guided in their learning using a combination of private study (135 hours), interactive lectures (20 hours), investigative practicals (6 hours) and small group tutorials exploring realistic problems/case studies (14 hours). Preparation for assignments (25 h) will enable students to reinforce and expand their knowledge base and develop subject skills and competences. They will be able to assess and reflect upon their understanding of the material through the completion on-line quizzes.
On completion of this module students’ provide an evaluation of how the module enabled them to develop skills such as information technology, organisational skills, team building, communication time management, and working under pressure.

On successful completion of this module students will be able to:
1.  Articulate a deep understanding of the genetic basis of a range of diseases and the complexities of their inheritance patterns;
2. Understand and apply numerical formulae to assess parameters such as Hardy Weinberg equilibrium, allele frequency, and the heritable risk of monogenic autosomal and sex linked disorders and of complex diseases;
3.  Recognise, interpret and explain to a high level of competency, changes in gene structure or expression in terms of the development of disease phenotype;
4.  Discuss and defend the wide scope of clinical practice in relation to the diagnosis and treatment of selected genetic diseases;
5.  Critically evaluate published cutting-edge medical genetic research and produce a balanced review of a selected genetic topic using up-to-date primary sources.

The module will be summatively assessed by the completion of a 2000 word report on a selected genetic topic (40%) and by an end of module test (60%) (2 hours) comprising short answer questions.
To pass the module students must achieve a minimum aggregate mark of 50%

Textbooks:
Griffiths AJF, Wessler SR, Carroll SB and Doebley J (2011).  Introduction to Genetic Analysis (10th edit.).
Jorde LB, Carey JC and Bamshad MJ (2010).  Medical Genetics  (4th edit). Mosby.
Lewis R (2010). Human Genetics, Concepts and Applications (9th edit.). McGraw-Hill.
Pritchard DJ and Korf BR (2007). Medical Genetics at a Glance (2nd edit). Blackwell.
Read A and Donnai D (2010). New Clinical Genetics (2nd edit). Scion.
Strachan T and Read A (2011).  Human Molecular Genetics (4th edit). Garland Science.
Sudbery P and Sudbery I (2009). Human Molecular Genetics (3rd edit). Pearson Benjamin Cummings.
Young ID (2010). Medical Genetics (2nd edit). Oxford University Press.

Journals:
Human Molecular Genetics, Nature Genetics, Nature Reviews Genetics, Trends in Genetics.