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GENE 313: Medical Genetics  OVERALL OBJECTIVE: The overall objective of GENE 313 is to develop an appreciation of how important genetics is in understanding the pathogenesis of human disease states. Staff from the Departments of Biochemistry, Pathology and Women’s and Children’s Health are involved in teaching the Medical Genetics course, with teaching carried out in combination of lecture and laboratory sessions. The prerequisites are GENE 221, 222 & 223, but good performance in other relevant papers will be considered.   THEME 1. GENE LOCALIZATION AND MENDELIAN DISORDERS - DR DAVID MARKIE (4 lectures, 1 laboratory) Topic 1. Single Gene Inheritance in Human Pedigrees   THEME 2. DISEASES WITH COMPLEX GENETIC ARCHITECTURE – PROF TONY MERRIMAN (5 lectures) Objectives 1. Recognise that the aetiology of complex disease is controlled by the interplay between genes and environment. 2. Understand the methodology underlying differnt types of approaches that can be taken to identiy disease susceptibility genes in humans including positional cloning, linkage mapping, and association analysis. 3. To be familiar with the design considerations as applied to association analysis, specifically candidate gene approaches and whole genome screening, and to be familiar with the methodological issues that impact on both approaches. 4. To understand the concepts of linkage disequilibrium and haplotype blocks and how they impact on the search for disease genes. 5. To recognise how copy number variation in the genome may underlie susceptibility to disease. Laboratory 1: Segregation in Pedigrees – Dr Markie THEME 3. SINGLE GENE DISORDERS/ GENE ENVIRONMENT INTERACTIONS PROF STEPHEN ROBERTSON Objectives (7 Lectures, 4 Laboratories) 1. Recognise conventions for depicting human pedigrees and identify classical patterns of single gene inheritance for characters determined by autosomal, sex-linked and mitochondrial genes. 2. Understand the concepts of pleiotropism, variable expressivity (including anticipation), locus heterogene ity and allelic heterogeneity, and incomplete penetrance as they relate to single gene traits. 3. Be aware of the effects that new mutation, soatic mosaicism, germline mosaicism and mistaken parentage may have on pedigree interpretation. 4. Understand the effects of imprinting on inheritance in pedigrees and recognise somatic genetic disorders as special cases of non-inherited single gene traits. Objectives 1. To understand how genetic conditions present clinically; what the clinical issues are; how they are resolved and communicated to families; what the future of genetics is in medicine. 2. To learn how the study of birth anomalies and their genetic components have increased our understanding of development. 3. Appreciate how genetics is contributing to the diagnosis and management of non-mendelian genetic disease 4. To gain an appreciation of the role of geneenvironment interactions in the causation of disease in humans. 5. To gain an appreciation of the scientific, logistical and ethical complexities that arise when applying genetic approaches to public health problems.   GENE 313: Medical Genetics (cont’d)   THEME 4. CHROMOSOMES – PROF STEPHEN ROBERTSON, DR GILLIAN MACKAY (2 lectures, 2 laboratories) Objectives 1. Describe the cytogenetic appearance of human chromosomes and common approaches to visualisation of chromosome structure. 2. Explain the nature of common human chromosomal aberrations, including aneuploidies, translocations, inversions, deleions, duplications, isochromosomes and ring chromosomes. 3. Describe mechanisms giving rise to significant human chromosomal aneuploidies. 4. Explain the concept of human “genomic disorders”, with illustrative examples, and the role of non-allelic homologous recombination in their genesis. 5. Appreciate the increasing role that array comparative genomic hybridisation is playing in the recognition of chromosomal imbalances.   Assessment The final exam is worth 60% of the final mark. All course content including that covered by guest lecturers is examinable. ). Practicals (20% of mark). Students are required to write a report on laboratory one “Pedigrees” (4%), five and six “Epigenetics” (8%) and seven “Clinical Genetics” (8%). There is also an essay worth 20% of the final mark. These essays will be marked and you will receive feedback on them, to allow you to practise writing skills in preparation for the final examination.   THEME 5. CANCER GENETICS AND EPIGENETICS – DR DUNBIER & PROF IAN MORISON. (7 lectures, 2 laboratories) Objectives 1. To understand that cancer is a genetic disease and the role than inherited and acquired genetic variation contributes to lead to cancer disease states 2. To understand some of the molecular mechanisms that contributes to the development of cancer, in particular the role of oncogenes and tumour suppressor genes. 3. To understand the multi-stage nature of the pathogenesis of cancer. 4. To study the molecular basis of specific cancers in depth. 5. To develop an appreciation of how genetic/ molecular information may be used in the development of diagnostics and therapeutics. 6. Understand how epigenetic modifications alter gene structure and function. 7. Appreciate the role that epigenetics can have on disease expression over the human lifespan.   Teaching staff: Prof Stephen Robertson (Course Coordinator), Prof Ian Morrison, Dr David Markie, Prof Tony Merriman, Prof Parry Guilford, Dr Anita Dunbier, Dr Erin Daly & Dr Gillian MacKay. For more information please contact: [email protected] or visit: www.otago.ac.nz/genetics