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Oggetto:
Oggetto:

Cell Biology and Genetics

Oggetto:

CBG

Oggetto:

Academic year 2021/2022

Course ID
SCB0198
Teachers
Prof. Isabelle Perroteau (Coordinator)
Prof. Adriano Ceccarelli
Dott.ssa Claudia Giachino
Prof. Saverio Francesco Retta
Year
1st year
Teaching period
First semester
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
Oral
Prerequisites
B2 English level
IMAT biology program
Oggetto:

Sommario del corso

Oggetto:

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. This knowledge will provide a solid foundation for a better understanding of human health as well as studying other related courses (basic and clinical). 

Oggetto:

Results of learning outcomes

  • Deep knowledge and understanding of cell structures and the dynamic functional activities of cells, cell communication, proliferation and survival.
  • Awareness that all pathologies result ultimately from dysfunctions - of genetic or environmental origin - in cellular activities. 
  • Critical thinking
Oggetto:

Program

Lecturers: Isabelle Perroteau (unit 01-03); Francesco Retta (unit 04-06)

Unit 01: Introduction to the cell
Unit 02: Cell structures and functions
Unit 03: Cell communication and signalling
Unit 04: Cell shape and motility
Unit 05: Cell proliferation and survival
Unit 06: Cell differentiation

INTRODUCTION TO THE CELL

  • Lectures (8 contact hrs)
    • Macromolecules (2 hrs)
    • Cell membranes (2 hrs)
    • Subcellular compartments: structure and functions (4 hrs)
  • Activities (4 contact hrs)
    • “If you can sketch it you know it” and virtual slides observation of cells (2hrs)
    • Case study paper on cell components (2hrs)
  • Personal study (14 hrs)
    • Homework (2 hrs)
    • Readings: MBC chapter 1, 2, 3 and 6 (8 hrs)
    • Knowledge and formative assessment (4 hrs)

Overall student workload: 26 hrs 

CELL STRUCTURES AND FUNCTION

  • Lectures (12 contact hrs)
    • Macromolecule synthesis topography and protein sorting to nucleus, mitochondria and peroxisomes (2 hrs)
    • The secretory pathway (2 hrs)
    • Vesicle-mediated transport and secretion (2hrs)
    • The endocytic route and the proteins and organelles turnover (2 hrs)
    • Membrane permeability, transporters and channels (2 hrs)
    • Cellular respiration (2 hrs)
  • Activities (6 contact hrs)Reasoning skills:
    • Problem-solving on molecular sorting (2hrs)
    • Case study discussion: CFTR and Cystic fibrosis (2hrs)
  • Personal study (20 hrs):
    • Homework: (2 hrs)
    • Readings: MBC chapter 10, 11, 12 and 13 (12 hrs)
    • Study of teaching materials and formative assessment (6 hrs)

Overall student workload: 38 hrs

CELL COMMUNICATION AND SIGNALLING

  • Lectures (8 contact hrs)
    • Principle of cell communication (1hr)
    • G-protein coupled receptors - Heterotrimeric G protein-linked signal transduction - AC, PKA, PLC, PKC, PI3K (3 hrs)
    • Enzyme-linked receptors and cytokine receptors: RSTK, TKR, RPTPs, cytokine receptors, (2 hrs)
    • Alternative signalling: adhesion receptors, protease-activated receptors and nuclear receptors (2 hrs)
  • Activities (4 contact hrs)
    • Reasoning skills: Problem-solving on signal transduction pathways (2 hrs)
    • Case study paper on cell communication (2 hrs)
  • Personal study (14 hrs):
    • Homework (2 hrs)
    • Readings: MBC chapter 15 and 20 (6 hrs)
    • Study of teaching materials and formative assessment (6 hrs)

Overall student workload: 26 hrs

CELL SHAPE AND MOTILITY

  • Lectures (10 contact 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 signalling 
    • Motility processes and cell migration. Chemotaxis
  • Activities (4 contact 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.
  • Personal study (16 hrs)
    • Homework work (6 hrs)
    • Readings and formative assessment (10 hrs)

Overall student workload: 30 hrs

CELL PROLIFERATION AND SURVIVAL

  • Lectures (10 contact hrs)
    • Cell cycle regulation
    • Mitosis and meiosis
    • Accidental and programmed cell death
    • Autophagy in cell survival and death
  • Activities (4 contact 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.
  • Personal study (16 hrs)
    • Homework work (6 hrs)
    • Readings and formative assessment (10hrs)

Overall student workload: 30 hrs

CELL DIFFERENTIATION

  • Lectures (10 contact hrs)
    • Stem cells, cell differentiation, and development of multicellular organisms. Cell tracing 
    • Nuclear reprogramming and induced pluripotent stem cells (iPSCs)
    • Genetically modified animal models
  • Activities (4 contact 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.
  • Personal study (16 hrs)
    • Homework work (6 hrs)
    • Readings and formative assessment (10 hrs)

Overall student workload: 30 hrs

Lecturer: Claudia Giachino

  1. Genetic heredity in eukaryotes
  2. Mutations, population genetics and innovative therapies

GENETIC HEREDITY IN EUKARYOTES 

  • Lectures (8 contact hrs)
    • Genetic stability and variability, Monofactorial characters and Mendel's laws
    • Autosomal and X-linked characters
    • Mitochondrial inheritance of diseases
    • Heredity 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
  • Personal study (14 hrs)

Overall student workload 26 hrs

MUTATIONS, POPULATION GENETICS AND INNOVATIVE THERAPIES

  • Lectures (8 contact hrs)
    • The 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 contact hrs)
    • Reasoning skills: problem-solving on population genetics
    • Critical thinking and inquiry skills: problem-based discussion on innovative therapies
  • Personal study (14 hrs)

Overall student workload: 26 hrs

Lecturer: Adriano Ceccarelli

DNA in living nuclei - structure, propagation and maintenance of genetic information:

Unit 01: DNA in living cells nuclei
Unit 02: Replication and repair of the genome

DNA IN LIVING CELL NUCLEI

  • Contact hours (10hrs)
    • Opening Lecture (2hrs) - ask the questions, indicate the direction of reasoning, provide tips on where and how to get information, introducing the online content, introducing the assignments.
    • Intermediate meeting 1 with groups (2hrs) to assess the progress made, investigate doubts, raise any other question
    • intermediate lecture (2 hrs) to focus lecturing on critical aspects emerging from intermediate meeting 1
    • intermediate meeting 2 with groups (2hrs) to assess the progress made, investigate doubts, raise any other question
    • Final meeting (2hrs) with the groups that conclude the initiated reasoning, comment the peer-assessments and introduce the themes/tasks to be developed/accomplished for the portfolio
  • Personal study (16 hrs)
    • Students gain first exposure to new material outside of class, usually via reading or lecture videos (3 hrs)
    • Homework (13 hrs) will be assigned as teamwork and will consist of assignments represented by short essay/problem solving, mind maps, flowcharts, question design.
      • group exercises (GA = GAssignment) - produced by teamwork, subject to peer assessment, it can be inserted into the Portfolio at the discretion of the student.
      • individual exercises (IA = IAssignment) - produced individually, may be subject to peer verification, it must be inserted into Portfolio.
      • Groups must perform and submit exercises in time for comments during the interim bout (according to the schedule set in each unit), in order to get peer-to-peer (formative assessments) between the intermediate and the final meeting. During the meetings, the most relevant feedback is commented on by the teacher and discussed with the class.
      • Peer assessment and summative assessment will be based on rubrics shared, discussed and agreed upon between the teacher and the students
      • Students will provide the Portfolio with a final self-assessment document whereby they present and discuss the competencies they have achieved. The completed final version of the Portfolio must be submitted at the end of the lecture period and before the first exam session.
      • Students will discuss their work and demonstrate the achievement of the competencies identified in their self-assessment document in a final oral examination

Established Goals:

  • Knowledge of the relationship between nucleic acid structure and function, Genetic information,
  • Knowledge of the relevance of nuclear architecture to gene function
  • Understanding that the regulation of gene expression is the key to health as opposed to unhealthy cell
  • Students will connect the above concepts to the concept of cell and organism health and diseases by understanding the role that DNA structure has in establishing the 3D architecture of nuclear chromatin, as well as the role that 3d chromatin architecture has in controlling a cell's genetic program and wellness.

Students will understand that...

  • The dimension of the whole DNA molecules and of the nuclei they will fit into is in a 10^9:1 ratio
  • DNA in a cell's nucleus must be organized into 3D or it won't fit + won't work
  • More than one type of information is stored into DNA
  • 3D distribution of information affects usage and is hence information itself
  • The 3D organization of DNA in nuclei is hierarchical
  • The genome is modular in nature and blocks can be switched on/off/reshaped by very simple DNA-protein interactions
  • Nuclear chromosome territories are not random
  • Chromosome proximity is not random in living cell nuclei
  • 3D architecture can turn accidents to the DNA fibre into lethal situation

Students will know...

  • The structure of DNA
  • The definition of gene, genome, functional element
  • The structure of prokaryotic and eukaryotic genes
  • The chromatin and chromatin states
  • The nucleosomes
  • The epigenetic information
  • The mechanisms deploying epigenetic information
  • The chromosome territories
  • The nuclear Compartments and TADs
  • The CTCF, cohesin and regulation of 3D architecture
  • The consequences of cell-type specific territories on chromosome structure

Expected Learning Outcomes

Students will be able to . . .

  • knowledge and understanding
    • Describe the experimental evidence demonstrating the existence of transmissible information between cells and which biomolecule carries information in living cells
    • Relate shape and function of DNA
    • Explain the concept of gene
    • Describe experimental evidence proving the existence of genes
    • Define chromatin and its components
    • Describe a nucleosome
    • Explain how interactions between histones and DNA generate different states of chromatin condensation
    • Identify the main mechanisms organizing a locus' 3D architecture
    • Define epigenetic information and explain its function
    • Describe how epigenetic information could be involved in human diseases
  • Applied knowledge and understanding
    • Predict the state of a region of the DNA fibre (presence of loops, assignment to compartment), according to the presence of specific sequences and the known regulation of the contained genes
    • Predict how the presence of specific genes and their regulation state could affect other genetic phenomena such as chromosomal rearrangements
    • Relate the 3D state of any given region of DNA to genome function, trying to draw general conclusions as to which are expected to be the most frequent consequences of locally altered 3D architecture
    • Describe how abnormal 3D architecture could cause diseases in humans
  • Making judgements
    • Ability to identify the information needed to solve a problem concerning the relationship between a malfunction of DNA folding into high order chromatin fibres and human diseases from various sources
    • Ability to evaluate the relevant aspect of an original problem relative to chromatin architecture and act accordingly to identify the information necessary to solve it
  • Communication skills
    • Demonstrate preparation of explanatory texts and illustrative material (pictures, presentations, essays, concept maps etc) to clearly communicate their theories their knowledge and skills
  • learning skills
    • reflect on their own learning path proving to grasp the strengths and weaknesses
      identifying effective strategies to improve their performance

Overall student workload: 26 hours

REPLICATION AND REPAIR OF THE GENOME

  • Contact hours (10hrs)
    • Opening Lecture (2hrs) - ask the questions, indicate the direction of reasoning, provide tips on where and how to get information, introducing the online content, introducing the assignments.
    • Intermediate meeting 1 with groups (2hrs) to assess the progress made, investigate doubts, raise any other question
    • Intermediate lecture (2 hrs) to focus lecturing on critical aspects emerging from intermediate meeting 1
    • Intermediate meeting 2 with groups (2hrs) to assess the progress made, investigate doubts, raise any other question
    • Final meeting (2hrs) with the groups that conclude the initiated reasoning, comment the peer-assessments and introduce the themes/tasks to be developed/accomplished for the portfolio
  • Personal study (16 hrs)
    • Students gain first exposure to new material outside of class, usually via reading or lecture videos (3 hrs)
    • Homework portfolio (13 hrs) will be assigned as teamwork and will consist of assignments represented by short essay/problem solving, mind maps, flowcharts, question design, peer-assessments, summative-assessment and self-assessment.
      • group exercises (GA = GAssignment) - produced by teamwork, subject to peer assessment, it can be inserted into the Portfolio at the discretion of the student.
      • individual exercises (IA = IAssignment) - produced individually, may be subject to peer verification, it must be inserted into Portfolio.
      • Groups must perform and submit exercises in time for comments during the interim bout (according to the schedule set in each unit) , in order to get peer-to-peer (formative assessments) between the intermediate and the final meeting. During the meetings, the most relevant feedback is commented on by the teacher and discussed with the class.
      • Peer assessment and summative assessment will be based on rubrics shared, discussed and agreed upon between the teacher and the students
      • Students will provide the Portfolio with a final self-assessment document whereby they present and discuss the skills they have achieved. The completed final version of the Portfolio must be submitted at the end of the lecture period and before the first exam session.
      • Students will discuss their work and demonstrate the achievement of the skills identified in their self-assessment document in a final oral examination


Established Goals:

  • Knowledge of the mechanism of the DNA synthesis process
  • Knowledge of the regulatory aspects of genome replication
  • Knowledge of the strategy of DNA repair pathways and of their functional connections to the DNA replication process
  • The students will connect the above concepts to the maintenance of the integrity of genetic information as well as to the health of a cell and of an individual

Students will understand that...

  • The complementarity of bases is crucial to a wide range of phenomena
  • The genome needs to be replicated as a whole, yet "completeness" cannot be the only rule and DNA replication needs to be finely regulated
  • DNA replication aims at replicating all the information contained by DNA, including epigenetic information
  • Replication of DNA and the reversibility of epigenetic information make replication an opportunity to reprogram cells
  • DNA damage can result from physiological processes
  • DNA damage and genetic mutations are related but distinct phenomena
  • DNA damage results in a wide variety of structures and the strategy to recognize them must be simple and sophisticated at the same time
  • DNA repair pathways differ mostly in their strategy and resemble each other in the mechanics of the repair process

Students will know ...

  • The structure of a replicon
  • The structure and function of the prokaryotic and eukaryotic replisome
  • The function of the enzymes is not part of the replisome and is involved in the replicative process.
  • The mechanism of DNA synthesis
  • The structure of a replication bubble immediately after replisome has synthesized new strands
  • The types of replication origin
  • The protein complexes interacting with the origins at different stages
  • The recognition, licensing and firing phases
  • The extra functions of the replisome
  • The replication foci
  • The replication factories
  • The types of DNA damage
  • The strategy to recognize different types of DNA damage
  • The strategies to repair DNA
  • The functional interactions between replication and repair

Expected Learning Outcomes

Students will be able to . . .

  • knowledge and understanding
    • describe the evidence for the semiconservative model of DNA replication
    • describe structural and functional differences between prokaryotic and eukaryotic replication origins
    • describe the structure of replicative machinery and list the enzymatic and non-enzymatic functions of the components
    • explain the mechanisms to synchronize DNA replication and cell proliferation (or cell cycle) in prokaryotic and eukaryotic cells
    • describe the structure and function of telomeres
    • explain the problem of telomere replication and the mechanisms involved to solve it
    • explain the need for regulating both quantitatively and qualitatively DNA replication in eukaryotic.
    • explain the strategy for Epigenome replication
    • discuss the differences in the need for quantitative control of DNA replication in prokaryotic and eukaryotic cells
    • describe the structure and function of centromeres
    • describe the principal chemical damages to DNA and the effect they can have on DNA
    • describe the principal mechanisms of damage recognition
    • describe the principal pathways of DNA repair
    • describe the molecular structures and the components involved as a mechanical machinery
    • relate DNA repair to other metabolic aspects of DNA
    • discuss the regulatory network necessary to carry on the mechanical steps AND to fulfil the quantitative and qualitative requirements of DNA replication/mitosis/karyokinesis at the same time
  • applied knowledge and understanding
    • relate alterations in the DNA replication process to their effects on human health
    • make hypotheses about the possible link between a simple pathology and malfunction for the DNA repair/replication system
  • making judgements
    • ability to identify the information needed to solve a problem concerning the relationship between health and DNA replication/DNA repair
    • ability to evaluate the relevant aspect of an original problem relative to DNA repair and act accordingly to identify the information necessary to solve it
  • communication skills
    • demonstrate the preparation of explanatory texts and illustrative material (pictures, presentations, essays, concept maps etc) to know clearly communicate their theories their knowledge and skills
  • learning skills
    • reflect on their own learning path proving to learn to grasp the strengths and weaknesses
    • identifying effective attitudes to improve their performance

 

Overall student workload: 26 hours

Oggetto:

Course delivery

Traditional classroom instructional strategy (CB and HG) includes direct instruction, question and answer, problem-solving, peer- and discovery learning in combination with ICT supported learning.

Blended classroom instructional strategy (MG): Students gain first exposure to new material outside of class, usually via reading or lecture videos, and then online 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

Oggetto:

Learning assessment methods

Final assessment:

  • face-to-face interviews with the Faculty, conducted in class.
  • Distant interviews on Webex platform are restricted to eligible students (formal indications)

 

  • Cell Biology (7 ECTS): You will answer 4 questions randomly extracted from a pool of open questions aimed to assess the degree of achievement of the learning outcomes. Test time: 20-30min/student
  • Human Genetics (2 ECTS): You will answer 3 questions randomly extracted from a pool of open questions aimed to assess the degree of achievement of the learning outcomes. Test time: 10-15min/student.
  • Molecular Genetics (2 ECTS): You will provide a final Portfolio demonstrating the skills and competencies that have been achieved, discuss your work and demonstrate the achievement of the competences identified in your self-assessment document.

  • Your final grading is the weighted average of the marks of each lecturer and is expressed as a value out of 30 points.
  • You will receive your final grade with an automatic email message from the web application.
  • If your final mark is ≥18/30, CGB exam is passed.
  • If your final mark is <18/30, CBG exam is failed and you will have to sit again for the interviews with the 4 lecturers in one of the next sessions.
  • If your final mark is 30/30, as a common decision of the 4 lecturers, you may be granted “cum Laude". The decision is based on outstanding participation to lectures, activities and/or final discussion.
  • Your passed final mark is considered as accepted by default unless you deny it on the web application within 5 days of the communication. The denied final mark is cancelled and you will sit again for the interview with each of the 4 lecturers, in one of the next sessions.

IMPORTANT: The web application through which the University manages the exams, from booking to online results, is the ESSE3 platform. In order to sit an exam, it is mandatory to enrol in the exam session on ESSE3: log in to the portal UniTO.it and access the page MyUniTO. Then select the "Esami" entry "Exam sessions" (warning: not from the "Careers"> "Booklet")

Oggetto:

Support activities

Students with SLD are encouraged to contact the SLD office [1] for special needs arrangement.

Suggested readings and bibliography



Oggetto:
Libro
Titolo:  
MOLECULAR BIOLOGY OF THE CELL
Anno pubblicazione:  
2015
Editore:  
W. Norton
Autore:  
B. Alberts
ISBN  


Oggetto:
Libro
Titolo:  
ESSENTIAL CELL BIOLOGY
Anno pubblicazione:  
2019
Editore:  
W Norton
Autore:  
B. Alberts
ISBN  
Oggetto:

  • Reference Textbook: MOLECULAR BIOLOGY OF THE CELL, B. Alberts et al., 6th edition, W.W. Norton
  • Teaching materials, lecture recordings and primary research literature assigned by lecturers are posted in moodle learning platform.

All course materials are copyrighted by the university and the individual instructors. Unauthorized distribution of these materials could violate the University Academic Integrity Policy and may subject you to disciplinary action.



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    13/09/2021 at 00:00
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    31/05/2022 at 23:55
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