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What it's like learning Genetics from a student at Abertay University.

Content involves principles and concepts in human genetic disease, including examples of specific disorders. As well as techniques relevant to clinical genetics and genetic therapies for human diseases focusing on emerging technologies. Content included some of the following topics - Gene therapy; including transgene delivery, use of designer recombinases, use of vectors, gene editing and targeting, transgene design - Looking at specific examples of diseases where gene therapies have been looked at e.g. Duchenne Muscular Dystrophy (DMD) - Discussing ethical considerations including topics such as “designer babies” - Preimplantation genetic diagnosis (PGD); including a discussion of techniques including PCR, FISH, NGS, WGAS and CGH - Prenatal genetic testing; including discussion of karyotyping, amniocentesis, CVS and specific examples of developmental signalling pathways e.g. WNT signalling pathway - Gene hunting - Developmental genetics - Types of mutations; Frameshift, Mosaicism, Point, De Novo etc. and the effects they may have - Haploinsufficiency and Haploinsufficiency - Mitochondrial mutations - Trisomies - Sex-linked inheritance - Polygenic inheritance - Genome structure, splicing and RNA interference - Control of gene expression - Examples of key developmental genes e.g. sonic hedgehog gene - Animal bioreactors The course was taught with online pre-recorded lectures and tutorials as well as a 3-hour of on-campus lecture with a tutorial. The assessment was an online formal 3-hour exam worth 60% and a review essay on a

monogenic disorder between 1500 and 3000 words, worth 40% of the overall grade. A list of monogenic disorders was given for students to pick their top 5 and the lecturer then distributed topics. The exam was open book, meaning notes could be used and the internet could be accessed. The exam was split into two sections - scenaria-based questions, where a description of a genetic order was given and the aim was to work out the condition. Even if the condition was wrong the thought process till allowed some marks to be gained. Genetic therapies was included in the second section with a hypothetical patient and disorder and the exam asked to create a therapy. The essay included the following : The clinical phenotype 1.1 signs and symptoms 1.2 prevalence 1.3 prognosis 1.4 screening and diagnosis 1.5 current treatment Genetic aberration 2.1 the gene involved 2.2 causes of the mutation 2.3 connection to phenotype Genetic counselling 3.1 hereditary implications 3.2 parental options Future outlook 4.1 diagnostic and screening advancements 4.2 therapeutic advancements

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