The main learning outcome of the course is to present to the students a unified picture of the ways genomic variants that predispose to or are associated with genetic diseases affect molecular pathways and cellular mechanisms by disrupting the cellular, tissue, organ, system, or body homeostasis.
The course will approach the issue of genotype-phenotype correlation in the context of diseases with a strong genetic basis. In other words, the course aims to connect the deranged molecular mechanisms that characterize a genetic disorder and its phenotypic consequences. The scope of the course is expected to be reached via the detailed presentation and analysis of specific genetic disorders that follow patterns of Mendelian inheritance, as well as multifactorial diseases that are believed to have a prominent genetic component. Both disease categories will serve as representative examples of large disease groups, such as enzymopathies, neurodegenerative, neurodevelopmental, musculoskeletal, mitochondrial, as well as multifactorial diseases.
Upon successful completion of the course, students are expected to:
- Be able to correlate the genetic causes/basis of an inherited disease (pattern of inheritance, type of genetic variation/mutation, etc) with (a) particular biochemical/molecular pathway(s) or mechanism(s) involved,
- Understand how the presence of genetic variation(s) that cause disruption or derangement of the normal function of a biochemical/molecular pathway can affect one or more crucial cellular functions,
- Comprehend the concept of genotype-phenotype correlation at the level of tissue, organ, system, and organism,
- Realize the multidisciplinarity that characterizes the efforts to unravel the pathogenetic mechanisms that underlie the inherited diseases, as well as the efforts to manage and/or treat these diseases with state-of-the-art and emerging novel molecular approaches.
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