Class Human Genetics

The UC of Human Genetics integrates the basic qualification contents of the future health professional, through the knowledge of human genetics as well as of the normal and pathological characters related to inheriting mechanisms. The acquired knowledge will support the student to recognize and apply some concepts of human genetics in the analysis, diagnosis and clinical practice.

Not applicable

Introduction to human genetics: objectives, importance and application areas. Organization of human genetic material. Human Karyotype. Mecanisms of gene expression Mechanisms of genomic alteration DNA repair mechanisms Citogenetics and Epigenetics Classical inheritance Non-classical inheritance Multifactorial inheritance Genetic variability in populations Cancer biology: genetic and epigenetic mechanisms Diagnosis and therapy in cancer Applied Genomics: genome analysis in human disease

During the semester, methodologies such as the active methodology and hybrid teaching will be used, which allow the adoption of technological resources to involve and improve the performance of students, allowing greater involvement in the acquisition of knowledge. For instance, writing a short scientific "paper" on the subject taught in practical classes or a seminar on a topic selected in theorethical classes, and presenting them at the end of the semester to colleagues. Study visits will also be made to external and clinical research labs, where students will be able to carry out practical protocols in a real context.

Strachan T, Goodship J, Chinnery P. "Genetics and Genomics in Medicine" Garland Science, 2015 (ISBN 9780815344803). Strachan T, Read AP. "Human Molecular Genetics", 5th Edition, Garland Science, 2018 (ISBN 9780815345893). Krebs JE, Goldstein ES, Kilpatrick ST. "Lewin's GENES XII (Lewins Genes)", 12th Edition, Jones & Bartlett Learning, 2017 (ISBN 9781284104493). Schaefer GB, Thompson JN. "Genética Médica - uma abordagem integrada", McGrawHill, 2015 (ISBN 9788580554762). Nussbaum R, McInnes R, Willard H. "Thompson & Thompson Genetics in Medicine", 8th Edition, Elsevier - health sciences division, 2015 (ISBN: 9780323392068). Hodgson SV, Foulkes WD, Eng C, Maher E. "A Practical Guide to Human Cancer Genetics", 4th Edition, Springer London, 2014 (ISBN 9781447123750).