Medical Genetics BSc(Hons)

​Biochemistry 1 gives a basic account of the structure and function of biological macromolecules, particularly proteins and is illustrated by reference to such molecules as haemoglobin. A firm grounding in enzyme action is provided and this is supported by a number of practical classes. The relationship between genes and proteins and the Central Dogma of Molecular Biology are emphasised. A foundation in the study of metabolism is provided, directing you towards an understanding of the underlying principles rather than rote learning of metabolic pathways. The subject provides the basis for further studies in subjects such as Cell Structure and Pharmacology. The subject is delivered by formal lectures and in laboratory classes. However your learning is supported by tutorial classes, the provision of web-based material and, where necessary, a limited amount of individual tuition.

​This module introduces you to the basic principles in chemical and physical science necessary for a sound understanding of modern biology. It is suitable for those students who have not studied any science beyond GCSE level and aims to prepare them for the more chemical topics and also to assist in the understanding of some of the theory behind techniques such as spectrophotometry and electrophoresis. The subject is delivered by formal lectures and in laboratory classes. However, your learning is supported by tutorial classes, the provision of web-based material and, where necessary, a limited amount of individual tuition. An introduction to atomic structure and the periodic table is followed by an account of chemical bonding sufficient to understand descriptions of the structure and properties of biologically important substances. Simple chemical kinetics and thermodynamics are also briefly covered along with an outline of the SI system of units. States of Matter is delivered mainly in a qualitative manner, sufficient to support such topics as respiratory physiology.

This module aims to introduce students from diverse backgrounds to the range of skills required in modern analytical science and illustrate how analytical methodology underpins scientific investigation across the conventional discipline boundaries. The module will build on and develop your prior knowledge of analysis whilst not assuming any particular area of expertise and will also endeavour to improve your numerical, IT and communication skills by illustrating analytical methodology in the context of these key skill areas. This module also aims to develop your ability to obtain and interpret a wide range of spectroscopic data in a systematic and logical fashion. In this way you'll be taught to apply your knowledge to a wide range of new problems and in so doing develop your general problem solving skills. The module will be taught primarily by lectures and tutorials with illustrative practical work to highlight salient points from the lecture material.

This module aims to introduce you to the full range of microbial life and the techniques used to study microorganisms and begins by introducing the diversity and countless activities of microbes. Subsequently, the structural and functional components of the cell and the similarities and differences of prokaryotes and eukaryotes are highlighted. Control of microbial growth, nutritional categories of microbes and environmental factors influencing the growth and viability of microbes are also investigated. The module then examines the biology of eukaryotes (fungi, algae and protozoa) by exploring classification, growth, asexual and sexual reproduction and nutritional adaptations. Finally, the classification of microorganisms using the Whittaker five kingdom system and the Woese three domain system is reviewed, as well as criteria for the identification of microbes. The associated practical classes are designed to develop your laboratory skills and familiarity with the basic microbiological methods.

Research in science ranges from finding out what is already known to carrying out investigations to add to our store of knowledge. This module provides the requisite background skills for successful completion of an Honours Degree in Biology. Basic generic skills involving literacy, numeracy and use of IT are applied to summarising, understanding, interpreting and presenting data generated by laboratory investigations. Throughout the module the emphasis is on learning the skills that will be used in various parts of the degree course. Acquisition of learning skills takes precedence over memorising facts. Learning about current topics in science involves finding peer-reviewed scientific literature (using library facilities and database searches), and summarising it with source attribution as a report using correct scientific style. Basic statistics is taught using spreadsheet and statistics programs. You'll also have the opportunity to build up a portfolio of evidence relating to your skills for Personal Development Planning.

This module seeks to give you an understanding of the essential processes involved in information storage and use in living cells together with the modern methods of molecular biology used to analyse genes and their expression. The essential properties of DNA and RNA together with their replication, transcription and translation into protein are discussed in some depth for both eukaryotic and prokaryotic organisms. The large variety of recently developed methods, which allow the identification, isolation and the characterisation of genes from potentially any living organism is introduced. The major enzymes used for DNA manipulation are discussed together with strategies for cloning the genes in different hosts. Analytical techniques such as DNA sequencing and polymerase chain reaction (PCR) are dealt with in some depth. In addition, the utilisation of the isolated genes both in genetically modifying organisms and in analytical techniques are introduced. Here particular emphasis will be given to what has been learned about the way in which the expression of genes is controlled. Lectures each week are supplemented with tutorials to help build up your confidence with the material. Sessions include restriction mapping, model building in gene expression strategies and the experimental methodologies from the lectures. There is a major practical element involving the isolation of DNA from bacteria, analysis by gel electrophoresis and bacterial transformation etc.

This module considers protein structure in relation to function, in particular enzyme action and membrane mediated metabolic processes. The various types of post-translational modifications of proteins are discussed in detail, followed by an account of protein folding. Protein mis-folding, aggregation and intrinsic disorder are also discussed using prion proteins, amyloid and FnBPA as examples. Various globular and fibrous proteins illustrate regulatory strategies. Channels, pumps and cytoskeletal components illustrate higher levels of organisation of proteins. The techniques of X-ray crystallography and Cryo-EM for protein structure determination are introduced. Advantages and limitations are discussed. Lectures will discuss various techniques for analysing protein structure, folding and protein-protein interactions (isothermal titration calorimetry, near and far UV circular dichroism). The structure and function of mitochondria and chloroplasts is also covered including respiration and photosynthesis pathways, focusing on electron transport chains. Mechanisms of enzyme catalysis are discussed with numerous examples (acid-base, covalent, nucleophilic, metal ion etc). In lectures, practicals and problem based tutorials you'll have the opportunity to develop the skills required for determining kinetic and inhibition constants (kcat, catalytic efficiency, Ki). Practicals will also allow you to isolate a pure protein from egg white, assess product quality and consider the commercial value of this purified material.

The module builds on the basic physiology that was studied in the first year. The organisation and regulatory roles of the nervous system are considered and their interaction investigated. The central nervous system (CNS) will be investigated and the functions associated with its anatomical regions. Interactions such as sensory and motor integration, sleep-wake cycles and higher mental functions (consciousness and memory) will also be introduced. Endocrine physiology and hormonal control will also be considered with integration of activities of the nervous and endocrine systems.

This module introduces you to the underpinning biophysical pharmaceutics for the formulation and compounding of medicines valuable for understanding of extemporaneous preparation, but also for the rational design of existing drug formulations. The theory outlining the formulation of drugs for improved absorption, metabolism and biological targeting provides the opportunity to gain a practical understanding of efficient pharmaceutical design.

The aims of this module are to introduce you to a range of pathogens responsible for major and emerging infectious diseases globally. To outline how pathogen biology not only influences pathology and transmission of disease, but is also the target for therapeutic intervention. We'll provide you with an overview of the drug discovery pipeline and other factors involved in the control of infectious diseases. This module also covers the mechanisms of action of existing and potential new therapies and discusses the significance of infectious diseases in the context of 21st century life. It also introduces the emerging importance of the commensal microflora and the concept of dysbiosis in the aetiology of a range of pathologies. The bases of pathogenicity and virulence for a range of bacterial, eukaryotic and viral pathogens will be addressed alongside discussion of current and prospective treatments for the diseases caused by these micro-organisms. The emerging importance of commensal microflora and the concept of dysbiosis in the aetiology of a range of human pathologies and antibiotic/drug-resistance are also important themes in this medical microbiology-themed module. Infectious diseases significant in a UK context and more widely in a global context will both be addressed. Lectures and assessment will cover bacterial, viral, and eukaryotic pathogens, which are the aetiological agents of human disease in tropical and temperate countries. Lecture content will include discussion of leading causes of mortality globally: e.g. cholera, malaria, tuberculosis, and HIV-AIDS. Threats posed by antibiotic resistance, challenges and opportunities associated with new medicine development, and the significance of emerging diseases against a backdrop of climate change will all be addressed.

This module introduces and explores contemporary methods used in molecular life sciences. It investigates technical aspects underpinning genome engineering and large-scale “omics” projects and presents applications and challenges of “omics” research using examples from a variety of model systems and approaches. The methods and challenges of investigating phylogenetic relationships between sequences and organisms are explored. The personal, societal, and ethical impacts of these developments and their effects on our understanding of genomes and evolutionary processes are considered. The computer practical parts of the module engage students with investigation of protein structure, phylogenetic techniques, and analysis of high–throughput data using publicly available datasets and resources.

This module covers the use of molecular genetic and cytogenetic techniques to delineate the cause and treatment of disease and illnesses and delivers an introduction to genetic counselling. The module begins with an account of the aetiology of human genetic disease and how DNA technology has aided disease gene mapping, cloning and sequencing and gives you an overview of gene and mutation databases. The latest methods used for disease diagnosis are then discussed, including fluorescence in situ hybridisation and high-throughput DNA sequencing. Prenatal diagnosis, population screening and ethics in medical genetics are discussed. You'll also be introduced to the concepts and tools for the study of complex diseases. The current state of gene therapy and animal models for human disease are also considered. The module highlights two particular diseases of interest – the diagnosis, molecular pathology and treatment of cystic fibrosis and the genetics and epigenetics of diabetes.

This module provides a comprehensive overview of adaptive and innate immunity. Detailed discussion is also provided for a broad range of parasites, bacterial pathogens and viruses and the dynamic interaction occurring after infection of a susceptible host: the host’s immune response; the evasion, inactivation, and/or manipulation strategies deployed by the microbial invader. Key experimental techniques commonly used in immunology research and in the diagnosis/monitoring of disease are also discussed.

This module provides the opportunity for you to learn about a range of different chronic diseases that can affect human health and quality of life. The underlying biology associated with some of these chronic diseases will be studied, the mechanism(s) by which they arise or develop and current treatments. There will be a particular focus on cancer as an example of a complex chronic disease. Other chronic diseases to be studied will be chosen to reflect recent advances in knowledge or treatment of a disease.