22222, 11-15 AM, Mesical Genetics 202112022 — University of Bologna ial) ALMA MATER STUDIORUM ?rZaky (elalais/s] UNIVERSITA DI BOLOGNA Home > Teaching > Course unit catalogue > Medical Genetics 2021/2022 83155 - Medical Genetics Course Unit Page Teacher : Kerry Jane Rhoden Credits : 2 SSD : MED/03 Language : English ‘Campus of Bologna : Degree Programme : Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 9210) #25 Online Lessons Teaching resources on Virtuale © Course Timetable from Apr 26, 2022 to May 27, 2022 SDGs This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda. Pea ey roe cy ACADEMIC YEAR 2021/2022 hitps ww. unibo:tlenteachingicourse-unt-catalogue/course-unit/2021421865 a210022, 1:15 AM Macical Genatics 202112022 — University of Bologna Learning outcomes Discuss the impact of human genome projects on genetic medicine. Identify the major categories of genetic disorders, and describe differences in their etiology and inheritance pattern. Reconstruct family pedigrees, and apply the principles of mendelian inheritance and population genetics to estimate the risk of recurrence of a monogenic disease. Describe the impact of variations to Mendelian inheritance on the clinical presentation of inherited disorders. Identify the clinical manifestations and etiology of selected genetic conditions, through critical analysis of clinical cases. Define the role of genetic counselling in the management of inherited diseases. Course contents Introduction to medical genetics ™ Classes of genetic diseases = Online resources Clinical genetics ™ Genetic counselling = Pedigrees = Genetic testing Mendelian/monogenic diseases ™ Mendelian inheritance patterns (autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive) = Risk of recurrence; Hardy-Weinberg principle and carrier frequency = Variations of mendelian inheritance (incomplete or age-dependent penetrance, anticipation, variable expressivity, genetic heterogeneity, de novo mutations and mosaicism, skewed X-inactivation, imprinting) = Disease examples: Huntington disease, acondroplasia, osteogenesis imperfecta, cystic fibrosis, Duchenne muscular dystrophy jitochondrial diseases = Mitochondrial DNA = Maternal inheritance pattern and variations (heteroplasmy/homoplasmy, mitochondrial threshold effect, mitochondrial bottleneck) = Classes of mitochondrial disorders and phenotypes Multifactorial diseases = Complex/quantitative traits and disease susceptibility & Strategies to study the genetic component of multifactorial diseases (familial aggregation, twin studies, adoption studies, association studies) Chromosomal disorders hitps ww. unibo:tlenteachingicourse-unt-catalogue/course-unit/2021421865 aie2122122, 1:15 AM Medical Genetics 2021/2022 — Univers of Bologna = Cytogenetics = Types of chromosomal anomalies: balanced versus unbalanced; numeric and structural anomalies ™ Contiguous gene syndromes (e.g. CATCH22 syndrome) Disorders of genomic imprinting and UPD = Prader-Willi Syndrome, Angelman Syndrome Readings/Bibliography = Thompson and Thompson Genetics in Medicine, 8th Edition (2015). Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard. Elsevier. ™ Medical Genetics, 6th Edition (2019). Lynn B. Jorde, John C. Carey, Michael J Bamshad. Elsevier. ™ Emery's Elements of Medical Genetics and Genomics 16th Edition (2021), Peter D Turnpenny, Sian Ellard, Ruth Cleaver. Elsevier. = Articles/reviews on selected topics provided by the professor Teaching methods Teaching/learning methods include: = lectures supported by PowerPoint presentations = videos = problem-based learning: human genetics problems to be solved in class with active student participation Assessment methods Details of the assessment method will be published soon. Teaching tools The following material will be available online through Virtuale: = pdf files of all lectures ® selected articles/reviews on relevant topics hitps ww. unibo:tlenteachingicourse-unt-catalogue/course-unit/2021421865 322222, 11-15 AM, Mesical Genetics 202112022 — University of Bologna Office hours See the website of Kerry Jane Rhoden rouowunsoon f @ @ W i pr Au : b ‘©Copyright 2022 - ALMA MATER STUDIORUM - Universita di Bologna - Via Zamboni, 33 - unibo# 40126 Bologna - Partita IVA 01131710376 hitps ww. unibo:tlenteachingicourse-unt-catalogue/course-unit/2021421865 aa