Medicine and Surgery

The aim of the course is to give students the tools to be familiar with structure and function of the principal components of the cell; to understand the molecular basis of cellular functions; to be aware of how the alteration of cellular functions can bring about pathological states. Students will learn how the genetic information flows from DNA to RNA and proteins and how traits are inherited from one generation to the other. Concepts of classical and molecular genetics will be taught. The students will learn the main principles and application of genomic science, including the most common approaches to Mendelian and complex disease gene identification. To know how to formulate a medical problem in biological and genetic terms. BIO/13 Learning outcomes By the end of the course the student should be able to: • Describe the function and the composition of the plasma membrane. • Understand why most cells are small in size. • Describe structure and functions of membrane proteins. • Understand the importance of selective permeability in biological systems. • Differentiate among diffusion, facilitated diffusion, osmosis, and active transport. • Understand the importance of coupled channels, cotransport, and countertransport. • Explain and give examples of endocytosis, phagocytosis, pinocytosis, receptor-mediated endocytosis, and exocytosis. • Differentiate between rough and smooth endoplasmic reticulum both in structure and function. • Understand how the endoplasmic reticulum and Golgi apparatus interact with one another and know with which other organelles they are associated. • Identify the three primary components of the cell’s cytoskeleton and how they affect cell shape, function, and movement. • Understand the value of ATP in biological metabolic reactions. • Describe two ways in which cells generate ATP and indicate which is the more efficient process. • Describe the nucleus and its components and explain its role in the regulation of cell functions. • Describe the molecular composition of eukaryotic chromosomes. • Understand the differences between heterochromatin and euchromatin. • Define signal transduction pathways. • Differentiate between intracellular receptors and cell surface receptors in terms of function. • Know the three cell surface receptor superfamilies, the basic structures of each and how each functions to convert an extracellular signal to an internal one. • Understand how cAMP and calcium function as second messengers and why they are necessary. • Explain the amplification process associated with protein kinase cascades. • Outline the stages in the cell cycle, including interphase (G1, S, G2), mitosis and cytokinesis • Describe the molecular mechanisms regulating and controlling cell division and the cell cycle • Exemplify how extracellular signals affect cell division and how cyclin-dependent kinases and cyclins control the cell cycle normally and in cancer. • Describe the process of Apoptosis. Outline the physiological role of apoptosis during development and homeostasis maintenance. MED/03 Learning outcomes: By the end of the course the student should be able to: • Describe the Human Genome Project and subsequent international projects such as HapMap and TCGA • Describe the use of microarrays and high-throughput sequencing • Describe the molecular diagnostics of Mendelian diseases • Describe the effects of somatic mutations and oncological genetics • Describe the main approaches for gene mapping of Mendelian disorders • Define the major principles of population genetics including Hardy-Weinberg equilibrium • Understand the effect of consanguineity on risk of genetic disorders • Describe the major approaches from genetic epidemiology to identify the presence of genetic risk factors for complex disorders • Describe the rationale for GWAS and the major results obtained in understanding the genetic bases of complex disorders