MedInTO Medicine and Surgery

Cell Biology and Genetics

CBG

Academic year 2017/2018

Sommario del corso

• Course objectives
• Results of learning outcomes
• Course delivery
• Learning assessment methods
• Support activities
• Program
• Suggested textbooks and readings
• Teaching tools

Course objectives

CBG is a basic course in modern medical education, the purpose of which is to make medical students master the structure and functions of cellular components, as well as genetic regulation and mechanisms; and know the development and trends of the science and the application of new technology. This knowledge will provide a solid foundation for studying other related courses (basic and clinical). 

Results of learning outcomes

At the end of the CBG course the student is expected to have:

• Deep knowledge and understanding of cell structures and the dynamic functional activities of cells
• Reached awareness that all pathologies result ultimately from dysfunctions - of genetic or environmental origin - in cellular activities. 
• Knowledge of the effects of growth, development, and aging on cells
• An understanding of and ability to interpret cell morpho-functional abnormalities in various diseases
• Acquired the ability to critically interpret the scientific data present in the relative international literature.

Course delivery

This course is delivered using the flipped classroom instructional methodology. Students gain first exposure to new material outside of class, usually via reading or lecture videos, and then class time is used to do the harder work of assimilating that knowledge through strategies such as collaborative and peer learning, problem-solving, discussion or debates.  The key purpose of the flipped classroom is to engage students in active learning where there is a greater focus on students' application of conceptual knowledge rather than factual recall.

Learning assessment methods

Assessment will be both formative and summative.

Formative assessment is designed to provide the immediate, explicite feedback to adjust ongoing teaching and learning to improve students' achievement of intended instructional outcomes. Formative assessment is a method of continually evaluating students' academic needs and development within the classroom and precedes summative assessments. Formative assessment includes self- and peer-assessment and is not used in the formal grading process.

Summative assessment includes end-of-unit and end-of-term tests exams created in the following formats: multiple choice, true/false, matching, drag and drop onto image, fill in the blank, extended written response and performance assessment. 

Summative assessment will be performed as follow:
End-of-unit tests will be as follows: cell biology (6 tests); molecular genetics (4 tests);  
End-of-term test:  human genetics (1 test). 

The formal summative grading process will be the sum of:  

• Cell biology (6 ECTS): best 4/6 end-of-unit tests
• Molecular genetics (3ECTS): best 3/4 end-of-unit tests
• Human genetics (2ECTS): end-of-term test 

Support activities

Students with disorders that may affect learning (e.g. color blind students, visually impaired, hearing impaired, dyslexic or with physical disabilities) are encouraged to contact the lecturers to adapt learning materials, activities and testing methods.

Program

The cell as the basic structural unit of life (I. Perroteau/S.F. Retta)
General architecture of the pro- and eukaryotic cell
Subcellular compartmentation
Cell organelle structure and function
Process of biological membrane biogenesis

Tools and methods to study cell structure and function (I. Perroteau/S.F. Retta)
Light and electron microscopy
Immunohistochemistry
Cell cultures and live cell imaging

Transport of ions and molecules and energy conversion in the cell (I.Perroteau/SF Retta)
Transport across compartmental membranes
Active and passive transport - transport of ions, small molecules and macromolecules - endocytosis and pinocytosis.
Molecular Medicine: ion transport in selected pathologies
Energy conversion in the eukaryotic cell (I.Perroteau/SF Retta)
Metabolic energy
Glycolysis - Mitochondrial compartment and ATP synthesis
Molecular Medicine*: mitochondrial diseases.

The flow of genetic information (A. Ceccarelli and C. Giachino)
Nucleus and DNA: how genetic information is organized, propagated and maintained (A. Ceccarelli)
Pro- and eukaryotic genomes
The ENCODE project
Chromatin and higher order nuclear organization of DNA
DNA replication
DNA damage and repair mechanisms
Mitosis and meiosis
Mobile Genetic Elements and genome evolution
Molecular Medicine*: higher order chromatin organization and human diseases
Genetic heredity in eukaryotes (C. Giachino)
Genetic stability and variability
Monofactorial characters and Mendel's laws - autosomal and X-linked characters -
Herediting polygenic characters
Chromosome mapping - molecular analysis of human loci
Mutations and their outcomes (Claudia Giachino)
Point, chromosomal and genomic mutations
Population genetics (Claudia Giachino)
Genetic variability and its modulation
Nucleus and RNA: copying and distributing genetic information (A. Ceccarelli)
Pro- and Eukaryotic Transcription -
Eukaryotic RNA processing and editing
Transcriptional and post-transcriptional control of gene expression
Molecular Medicine: exploiting transcriptional control for the therapy of human diseases
RNA in the cytoplasm: usage of coding and non-coding genetic information (A. Ceccarelli)
The genetic code - Translation
Non-coding regulatory RNAs - RNA interference and other regulatory networks
The mitochondrial genetic system

Regeneration of cellular compartments and intracellular traffic (I.Perroteau/SF Retta)
Basic principles in the biogenesis of compartments
Protein sorting to nucleus, mitochondria and peroxisomes
Protein synthesis and transport in the endoplasmic reticulum (ER)
Synthesis of membrane lipid in the ER
Autophagy: types, mechanisms and cellular functions
Mitochondrial homeostasis: the interplay between mitophagy and mitochondrial biogenesis
Molecular Medicine: Cystic fibrosis; diseases associated with autophagy anomalies
Basic principles in vesicle-mediated transport
Vesicle formation, transport and fusion with acceptor compartments - vesicle traffic from the ER to post-Golgi compartments - protein and lipid modifications in the Golgi - Endocytosis, phagocytosis and macropinocytosis - Digestion in the lysosomes
Molecular Medicine*: lysosomal diseases - endocytosis and phagocytosis as defence mechanisms and vehicles of infection

Cell communication and signaling (I.Perroteau/SF Retta)
Basic principles and modalities of cell signaling
Steroid hormones and nuclear receptors
G-protein coupled receptors - Heterotrimeric G protein-linked signal transduction - PKA, PLC, PKC, PI3K, mTorC1 and mTorC2
Tyrosine kinase receptors, other membrane receptors and phosphatases and signal transduction - MAPK
Monomeric G proteins
Redox signaling
Molecular Medicine: oncogenic and tumor suppressor proteins; redox signaling in cardiovascular health and disease

Regulation of cell shape and motility: the cytoskeleton (I.Perroteau/SF Retta)
Relationship between cell shape and function
Microfilaments, microtubules and intermediate filaments
Motility processes and cell migration
Actin filament assembly and regulation
Microtubules and specialized structures: mitotic spindle, flagella, axon
Microtubule assembly and regulation
Motor proteins of microfilaments and microtubules
Intermediate filaments and the stability of cell shape
Intermediate filament assembly and regulation
Molecular Medicine*: diseases linked to cytoskeletal dysfunction

Cell proliferation, cell cycle and programmed cell death in eukaryotes (I.Perroteau/SF Retta)
Regulation of mitosis and cytokinesis - Cell cycle regulation
Cell death: necrosis - apoptosis - Regulatory circuitry in apoptosis

From unicellularity to multicellularity: cell adhesion (I.Perroteau/SF Retta)
Structure and function of the major classes of cell adhesion molecules
Adhesion complexes in tissues - Cell-extracellular matrix adhesion
Molecular Medicine*: diseases linked to cell adhesion dysfunctions and epithelial/endothelial-mesenchymal transition (EMT/EndMT)

Basic principles of cell differentiation (I.Perroteau/SF Retta)
Determination and differentiation  
Genomic equivalence and cytoplasmic determinants
Instructive and permissive induction
Nuclear transplantation and cloning - Nuclear reprogramming and genomic imprinting - Stem cells and Induce Pluripotent Stem Cells
Molecular Medicine*: developmental disease (e.g. Kallmann syndrome).

(*)Specific pathologies discussed in molecular medicine may differ from one group to another but course objectives and learning outcomes are the same for all students. 

• Adopted textbook: Molecular Biology of the Cell, B. Alberts, 6th edition, Garland Sciences (eTextbook edition recommended for inclass activities)

• Teaching materials
• Exams and finals
• Go to Moodle
• Visit the forums