Genomics and Mainstream Medicine

BIOL67362 Genomics and Mainstream Medicine - Ophthalmology 15 Semester 2 Postgraduate Taught Level 7 Graeme Black Unit coordinator Forbes Manson Unit coordinator School of Biological Sciences 1 FHEQ level (Framework for Higher Education Qualifications) ' Masters/Integrated Masters P4 ' European Credit Transfer & Accumulation System Rating : 7.5 This unit will provide essential and contemporary knowledge relating to ophthalmology in the context of genomic science and genetic disease.The lectures will be delivered by a range of clinical and non-clinical academic staff, including internationally recognised experts in their field. This unit will provide essential and contemporary knowledge relating to ophthalmology in the context of genomic science and genetic disease.The lectures will be delivered by a range of clinical and non-clinical academic staff, including internationally recognised experts in their field. <div> This unit introduces students to the molecular basis of human genetic diseases from the viewpoint of mainstream medicine and will use inherited eye disease as an exemplar. The unit will cover major causes of inherited blindness;  advances in the management and diagnosis of genetic conditions, the potential for gene and stem cell therapy for retinal and ocular disease, and the practical and social impact of inherited disorders that are associated with blindness. By the end of this module the student will be able to: <ul> <li>  Understand the relevance of genetics and genomics to ophthalmology</li> <li> Understand the impact and relevance of inherited disease in ophthalmology</li> <li> Understand the context of genome architecture and its variation; the regulation of gene expression and the  variation in genome structure and sequence in the context of inherited eye disease</li> <li> Correlate genetic variants to phenotype and interpret study data for inherited ophthalmic traits and so understand the molecular mechanisms of Mendelian disorders</li> <li> Understand the current strategies for molecular diagnosis of genetic ophthalmic diseases using cutting edge technologies</li> <li> Understand the  genetic risks for Mendelian conditions using pedigree data</li> <li> Gain an understanding of the science and application of animal models and stem cells in modern genetic research</li> <li> Understand the integrated management strategies required to deliver genomics in the context of a mainstream specialty including counselling, liaison with social support and clinical genomic care pathways.</li> </ul> </div>   Use advanced knowledge in specialised genomic medicine, and appraise  the application of new technologies in the diagnosis and management of genetic diseases, and explain the importance of research systems (e.g. animal models and stem cells)  to further research and treatment of genetic ophthalmic disease. Students will be able to understand how human genetics can be applied to clinical care in the context of ophthalmology. The course contains 15 hours lectures and tutorials or workshop type learning.  1 Written exam 50% 2 Written assignment (inc essay) 25% 7 Oral assessment/presentation 25% Written and verbal feedback given. Y Graw J. Eye development. Curr Top Dev Biol. 2010;90:343-86.O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O'Grady A, Webster A, Ramsden SC, Black GC. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet. 2012 May;49(5):322-6.Broadgate S, Yu J, Downes SM, Halford S. Unravelling the genetics of inherited retinal dystrophies: Past, present and future. Prog Retin Eye Res. 2017 Mar 29. pii: S1350-9462(16)30067-2.DiCarlo JE, Sengillo JD, Justus S, Cabral T, Tsang SH, Mahajan VB. CRISPR-Cas Genome Surgery in Ophthalmology. Transl Vis Sci Technol. 2017 May 31;6(3):13.MacLaren RE, Bennett J, Schwartz SD. Gene Therapy and Stem Cell Transplantation in Retinal Disease: The New Frontier. Ophthalmology. 2016 Oct;123(10S):S98-S106. 0 0 150