Medical Genetics MSc 2011 The MSc Medical Genetics course is designed to promote a deep understanding of the rapidly

evolving field of genetics and genomics as applied to human health and disease. Students will develop knowledge and skills, which will equip them for future careers in medical genetics and related areas. The course will foster students to become effective learners/practitioners by developing a variety of personal skills and capabilities. Emphasis will be placed on self-directed and problem based learning within a lecture/tutorial/ practical framework. Students will explore case studies to promote high level reasoning in a professional context and to enhance a comprehensive and critical understanding of the existing state of knowledge in medical genetics. Students will gain intellectual and practical skills necessary for the collection, analysis, interpretation and understanding of scientific data through practical exercises, IT exercises and a research project. Tutorial exercises and progress tests will be used to provide students with feedback on their progress. Summative assessment of students knowledge base and their understanding will be incorporated into formal in-course tests, reports, extended essays, examinations, presentations, completed during or at the end of each module together with a report, a dissertation and an oral examination for the research project. Formative assessment of students approach to literature research is incorporated in group activities and project seminars. Students have access to the innovative Graduate Centre to meet and discuss their courses. The North campus library has recently undergone a successful refurbishment offering specialised group study areas as well as access to a comprehensive range of textbooks, journals and online learning resources. There are also open areas on the ground floor of the Tower building and the green lounge at Benwell Road offering open study areas. These areas all have access to IT facilities with several terminals at each one and have wireless IT access. Practical and data-mining IT skills are an essential part of the MSc course and students have access to the unparalleled facilities in the Science Centre Teaching Laboratory. Practical classes and IT sessions are designed to reinforce the knowledge from the lectures and tutorials. The course aims to promote a good knowledge-skills balance of laboratory, IT, and theory. The Science Centre also provides an excellent facility to carry out the final research project. MSc project assessment will culminate in the presentation of a dissertation and a viva exam, which also explores knowledge and understanding. Aims of the course The Postgraduate taught Medical Genetics programme aims to: provide a programme of advanced study for graduates that will equip them for future careers in medical genetics and related areas; foster intellectual skills necessary to develop a critical and comprehensive understanding of the scientific principles, informatics and ethical frameworks that underlie the theory and practice of medical genetics; develop skills for the collection, analysis, interpretation and understanding of scientific data; provide practical opportunities in a multidisciplinary environment;

enable students to become effective learners/practitioners by developing a variety of personal skills and capabilities Course structure The MSc is a one-year full-time course involving 30 weeks of taught units divided into two 15-week semesters commencing in either September or February. The part-time mode follows a similar pattern over two years. You take five taught core units: Medical Genetics, Biomedical Informatics, Ethical Issues in Biomedical Science, Biomedical Diagnostics and Scientific Frameworks for Research. The Research Project and Dissertation (equivalent to three units) is also compulsory. You must take one other unit chosen from the options offered. A Postgraduate Certificate or Postgraduate Diploma may also be awarded: to be eligible for a Postgraduate Diploma you need to successfully complete six units (four core plus two optional) and for a Postgraduate Certificate you need to successfully complete three units, (all core). Core Units Medical Genetics A review of human disease with a genetic component, relating phenotype to genotype wherever possible, from monogenic disorders to complex, multifactorial diseases with a consideration of hereditary mechanisms not linked to DNA sequence (genomic imprinting). The use of animal models to further understanding of genetic diseases and develop strategies for gene therapy. The application of current knowledge to clinical pratcice in the NHS. Biomedical Informatics The module applies in silico approaches to the analysis of genetic disease, utilising the databases and software developed from genome sequencing projects, and reviews the methodology for identifying candidate genes associated with complex traits. This will be linked to an analysis of the influence of genetic variation in human populations to the penetrance of disease phenotype and to responses to environment, lifestyle and therapy (pharmacogenomics). Ethical Issues in Biomedical Science Introduces you to important contemporary theories in normative ethics: Absolutism; Utilitarianism; The Ethics of Care; Virtue Ethics; Anti-Theory. These theories will be used to illuminate crucial ethical aspects of important contemporary developments in biotechnology. Biomedical Diagnostics Gives an appreciation of the molecular lesions which cause genetic diseases, and illustrates the techniques currently used in molecular medicine (based on both genes and gene products) by which inherited and acquired genetic diseases may be diagnosed. The detection of infection using molecular probes will also be considered. Scientific Frameworks for Research (MSc only) Examines the planning, organisation and prosecution of a laboratory-based project. Different analytical approaches to problems and literature search and evaluation will be reviewed, together with a consideration of statistics and quality control. The impact of safety, ethical and resourcing issues on project

design and prosecution will also be addressed. Appropriate IT skills will be developed to research, analyse and present data. Research Project and Dissertation (MSc only) Provides hands-on experience in the assessment of a scientific problem, development and testing of a working hypothesis, and evaluation of the outcome. You may undertake this work in-house or at an approved external institution. If you are a part-time student you will be encouraged to carry out work of relevance to your parent laboratory.

Optional Units Epidemiology of Emerging Infectious Disease Surveys recent trends in morbidity and mortality statistics. You will study a range of exotic viruses and microorganisms eg. Ebola and the haemorrhagic fever viruses; influenza viruses and TB organisms, from a standpoint of their impact on public health, their routes of transmission and control strategies. MDRS will also be considered. Advanced Immunology Reviews the development and operation of the immune system in both health and disease and explores current ideas in immunopathology, immunosuppression and in transplantation immunology and immunotherapy. You will also study the development of immunoassay and immunocytochemical techniques for detection of antigens and disease markers. Metabolic Pathology This module expands knowledge and understanding of intermediary and secondary metabolism from the perspective of the mechanisms, consequences and treatment of metabolic disease. Integrated Pathology Reviews the causes, mechanisms and progression of disease and will demonstrate the impact of experimental research and established investigation in pathology. It will develop your knowledge and understanding of organ-system and multi-system pathology with particular reference to major UK diseases and local disease foci, and develop your ability to research,evaluate and present a literature review of a topical issue. Bioinformatics and Molecular Modelling Uses online databases and software to extract, analyse and interpret DNA, RNA and protein sequences and to model structures of proteins. Dissertation/project A 5000 word dissertation of original research is submitted after the end of one years full-time study. The aims of the project are to demonstarte your synthesis of knowledge and skills developed through the course. Typically the choice of project will be decided in consultation with your supervisor and generally reflects the research interetsts of the group. It may be possible to carry out the project in the workplace or at an external institution, providing a suitable supervisor can be arranged. Employment

The MSc course is supported by research within the School of Human Sciences and the Institute for Health Research and Policy, both of which have collaborative links with research units and medical schools in the London area and beyond. Main areas of research at LMU in genetics include haemochromatosis, community genetics, cellcycle control, and a project on health in children in Columbia. The last is a new and exciting initiative in which about 700 samples of DNA from a genetically homogenous population of Columbian children will become available for analysis. Importantly each child will undergo a comprehensive survey of health and fitness and there will be a unique set of phenotypic data which provide material for investigating genotype phenotype interactions. This project involves a collaboration with hospitals in Columbia, USA and Canada and is one of the first of its type in the world. Titles of research projects carried out by students for the MSc Medical Genetics include: Protein-protein interactions of cyclin dependent kinases in cancer The Role of Transferrin Receptor 2 in Hereditary Hemochromatosis Is Type I HereditaryHemochromatosis a Digenic Disorder? Association of Asthma with IL-8 a family case study Splice site variation of CYP3A4 in an Ethiopian population. Modelling Hephaestin-Transferrin Interactions [the data from this project has contributed to a research paper currently under review for publication and has been presented at several national and international research meetings] Iron genes and low-birth weight in caucasian and south Asian populations Progression opportunities The course provides students with an opportunity to develop knowledge and skills that would place them well for employment in the health sector, medical research, or in health care biotechnology. A significant number of students are medically qualified and find the course a very useful introduction to modern genetics, supporting their career aspirations in clinical genetics. Many students have gone on to do PhDs in labs around the world (Spain, Australia, Germany, UK). Other students have gained jobs in health industries (cosmetics, pharmaceuticals and hospital or research laboratories).