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Cell Biology and Genetics

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CBG

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Academic year 2018/2019

Course ID
SCB0198
Teaching staff
Prof. Isabelle Perroteau (Coordinator)
Prof. Adriano Ceccarelli
Claudia Giachino
Prof. Saverio Francesco Retta
Year
1st year
Type
Basic
Credits/Recognition
11
Course disciplinary sector (SSD)
BIO/13 - biologia applicata
MED/03 - genetica medica
Delivery
Blended
Language
English
Attendance
Mandatory
Type of examination
Written and oral (optional)
Prerequisites
  • B2 English level (Common European Framework of Reference for Languages - CEFRL)
  • Students with IMAT biology score below 25% will be given additional online instruction and materials and will have to demonstrate as soon as possible they regain prerequisites.
Propedeutic for
all biological and clinical courses
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Sommario del corso

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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). 

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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.
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Course delivery

Instructional techniques include direct instruction, question and answer, problem-solving and discovery learning. Molecular Genetics module is delivered using the flipped classroom instructional strategy. 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.

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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.
-Cell biology summative assessment: Mean value of two tests, respectively on units 1-3 and 4-6 . Each test will be a 45 min quiz, consisting in 15 questions created in the same format as the formative assessments. The test on units 1-3 will be held at the end of part 01 and the test on units 4-6 at the end of part 02. Cell Biology summative assessment is optional.
-Molecular genetics summative assessment: best 3/4 end-of-unit tests and assays. Molecular Genetics summative assessment is mandatory.

Due to the difference in the teaching method:
-Cell Biology summative assessment mark will be taken in account for formal grading only in the exam session of february 2019. 
-Molecular genetics summative assessment mark will be taken in account for formal grading up to december 2019.

Exam sessions:
February 20, 2019 exam session:
-Students accepting the summative Cell Biology mark (mean value of tests on part 01 and 02) will sit for a one hour test consisting in 5 open- and problem-solving questions on Human Genetics.
-Students that didn't sit for the two summative assessments or deny their mark (mean value of tests on part 01 and 02) will sit for a unique moodle test of either 120 or 90 min, consisting in 15 questions on CB-part 01 and/or 15 questions on CB part 02 and 5 questions on Human genetics. 
-Other exam sessions:
18/06/2019; 24/07/2019; 18/09/2019; 18/12/2019
All students will sit for a unique moodle test of 120 min consisting of 15 questions on CB-part 01, 15 questions on CB part 02 and 5 questions on Human genetics (9 ECTS). Questions will be created in the same formats as for the summative assessments.

Formal grading

  • Al marks are expressed as a value out of 30 points. The formal grading process is caculated as the weighted sum of Cell Biology (6 ECTS), Molecular genetics (3 ECTS) and Human genetics (2 ECTS) marks.
  • Weighted sum less than 18/30 will be considered as failed and students will have to sit again.
  • Students with a weighted sum of 30/30 and that have demonstrated high level of particpation to lectures and activities, both online and in class, can also be granted "30/30 cum lauda" as a commun decision of the 4 lecturers.
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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.

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Program

Delivered according to the traditional classroom instructional strategy

Unit 01 Genetic heredity in eukaryotes
Lectures (8 hrs)
- Genetic stability and variability, Monofactorial characters and Mendel's laws
- Autosomal and X-linked characters
- Mitochondrial inheritance of diseases
- Herediting polygenic characters
- Molecular analysis of human loci
Student activities (4 hrs)
- Adaptive thinking and reasoning skills: Interpretation of family trees
- Reasoning skills: Problem solving on human disease inheritance

Unit 02 Mutations, population genetics and innovative therapies
Lectures (8 hrs)
- Point, chromosomal and genomic mutations
- Genetic variability and its modulation inside populations
- Immunogenetics and gene therapy
- Stem cell genetics and regenerative medicine
Student activities (4 hrs)
- Reasoning skills: problem solving on population genetics
- Critical thinking and inquiry skills: problem-based discussion on innovative therapies

Delivered according to the traditional classroom instructional strategy

Unit 01 Introduction to the cell 
Lectures (8 hrs)
- Subcellular compartments
- Cell cultures and live cell imaging
- Protein analysis. Light and electron microscopy in cell biology
Student activities (4 hrs)
- Cognitive skills: Formative assessment (0.5hr, online)
- Adaptive thinking and reasoning skills: Reading of optical and electron micrographs (0.5hr, online)
- Critical thinking and inquiry skills: visit to research labs and discussion on experimental study of cell structure and functions (2hrs, face to face) 


Unit 02 Cell structures and functions 
Lectures (8 hrs)
- Protein synthesis and sorting to nucleus, mitochondria and peroxisomes
- The secretory pathway and vesicle-mediated transport
- Exocytosis, exosomes and microvesicles. Endocytosis, phagocytosis and macropinocytosis
- Transporters and channels
Student activities (4 hrs)
-Cognitive skills: Formative assessment on biological membranes (1hr, online) 
-Reasoning skills: Problem solving on molecular sorting (2 hr, face to face) 
-Case study discussion: CFRT and Cystic fibrosis (1hr, online)


Unit 03: Cell communication and signaling 
Lectures (8 hrs)
- Principle of cell communication
- G-protein coupled receptors - Heterotrimeric G protein-linked signal transduction - AC, PKA, PLC, PKC, PI3K
- Enzyme-linked receptors and cytokine receptors: RSTK, TKR, RPTPs, cytokine receptors
- Alternative signalings: adhesion receptors, protease-activated receptors, nuclear receptors and circadian clocks
Student activities (4 hrs)
- Cognitive skills: Formative assessment on cell communication and signalling (3hr, online) 
- Reasoning skills: Problem solving on signal transduction (1hr, online)
- Problem-based discussion on cell communication and GPCR and enzyme-linked receptors signal transduction (2hr, face to face) 
- Problem-based discussion on alternative signalings (2Hr, face to face)

Delivered according to the traditional classroom instructional strategy

Unit 04: Cell shape and motility 
Lectures (8 hrs)
- Cytoskeleton: Microfilaments, microtubules and intermediate filaments assembly and regulation
- Motor proteins of microfilaments and microtubules. Specialized structures: mitotic spindle, flagella, axon
- Cell-cell and cell-matrix adhesion and signaling 
- Motility processes and cell migration. Chemotaxis
Student activities (4 hrs)
- Cognitive, reasoning and communication skills: development and presentation of cooperative studies (group learning and group work at home) aimed at deeper understanding and contextualization in the medical field of the biological topics covered (4hrs, face to face).

Unit 05: Cell proliferation and survival
Lectures (10 hrs)
- Cell cycle regulation
- Mitosis and meiosis
- Accidental and programmed cell death
- Autophagy in cell survival and death
Student activities (4 hrs)
- Cognitive, reasoning and communication skills: development and presentation of cooperative studies (group learning and group work at home) aimed at deeper understanding and contextualization in the medical field of the biological topics covered (4hrs, face to face).

Unit 06 Cell differentiation
Lectures (6 hrs)
- Stem cells, cell differentiation, and development of multicellular organisms. Cell tracing 
- Nuclear reprogramming and induced pluripotent stem cells (iPSCs)
- Genetically modified animal models
Student activities (4 hrs)
- Cognitive, reasoning and communication skills: development and presentation of cooperative studies (group learning and group work at home) aimed at deeper understanding and contextualization in the medical field of the biological topics covered (4hrs, face to face).

Delivered according to the flipped classroom instructional strategy

Nucleus and DNA: how genetic information is organized, propagated and maintained

Online lectures (12 hrs)
-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
Student activities (6 hrs)
-Critical thinking skills: problem-based discussion on DNA manipulation and genetic engineering basics (0,5 hr - group activity)
-Problem solving and collaborative skills: group activity on problems about gene definition, eukaryotic gene structure (1 hr - Group Activity)
-Problem solving and collaborative skills: group activity on problems about regulation of genome 3D architecture, relationship between 3D organization and genetic phenomena such as chromosomal rearrangements (1,5 hrs - Group activity)
-Critical thinking skills and problem solving skills: discussion the need for the quantitative regulation of DNA replication - eukaryotic vs prokaryotic (1 hr - group activity)
-Reasoning skills: problems on DNA replication-DNA repair/cell cycle relationship (1 hr - group activity)
-Reasoning skills: problems on replication of epigenome and discussion on its implications (1 hr - Group activity)

Nucleus and RNA: copying and distributing genetic information

Online lectures (6 hrs)
-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
Student activities (3 hrs)
-critical thinking skills: focus on bacterial and eukaryotic gene regulation (20 - individual test followed by group activity)
-mini lecture 1 on experimental approach to eukaryotic gene regulation (5'- ppt slides)
-critical thinking skills: problems on minilecture 1 (15' group activity)
-minilecture 2 on experimental approach to eukaryotic gene regulation (5'- ppt slides)
-critical thinking skills: problems on minilecture 2 (15' group activity)
-minilecture 3 on experimental approach to eukaryotic gene regulation (5'- ppt slides)
-critical thinking skills: problems on minilecture 3 (15' group activity)
-minilecture 4 on experimental approach to eukaryotic gene regulation (5'- ppt slides)
-problem solving skills: problems on minilecture 4 (15' group activity)
-Problem based discussion and critical thinking skills: discussion of paper Intron-early/Intron-late and the exon theory of gene and of its implication fo eukaryotic (human) genome evolution (80' - peer-to-peer discussion followed by problem solving group activity)

RNA in the cytoplasm: usage of coding and non-coding genetic information

Online lectures (6 hrs)
-The genetic code - Translation
-Non-coding regulatory RNAs - RNA interference and other regulatory networks
-The mitochondrial genetic system
Student activities (3 hrs)
-Reasoning skills: problems on relevance of abnormal splicing to protein structure (1 hr - group activity)
-Reasoning skills: problems on non-coding RNA regulatory roles (1 hr - Group activity)
-Reasoning skills: problems on protein synthesis and relevance of differences between prokaryotic and eukaryotic mechanisms

Suggested readings and bibliography

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



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