MedTec 2024/25 - 2nd year

The course will merge molecular biology and medical genetics with computational science and bioinformatics to give an up-to-date vision of molecular genetics mechanisms involved in human diseases, with a particular focus on genetic disorders. Besides the theoretical part, large space will be given to practical sessions in which the students will learn how to use genomics data present on the web and how to analyze real DNA and RNA sequencing data.

The “Molecular biology” module will be focused on understanding structure, function, and turnover of macromolecules, the structure and regulation of genes and genomes, the mutability of the genome and the mechanisms of DNA repair. The impact of recombinant DNA technologies on basic and applied biomedical research will also be illustrated.

The “Medical genetics” module will illustrate the types and extent of genetic variation seen in the human genome, and how this variation affects disease susceptibility. The module will particularly emphasize how molecular and population genetics have impacted on our understanding of the mechanisms of human disease, providing us with novel diagnostic and therapeutic strategies.

The “Bioinformatics and Computational science” module will focus on fundamentals of computational methods used to analyze functional genomics data. It will illustrate techniques for comparison of biological sequences by considering specific algorithms, complexity issues and available resources. The module will also introduce computational strategies and challenges in data analysis to study genetic variation and transcription. Aspects of analytics for raw data processing will be illustrated highlighting their relatedness with technology. Fundamentals of data mining techniques applied to gene expression profiling will be presented along with tools for functional annotation. The module will also introduce the R programming environment and the implementation of specific pipelines to manipulate and process data through practical examples of solutions for specific biological problems.