First cycle
degree courses
Second cycle
degree courses
Single cycle
degree courses
School of Medicine
Course unit
MEO2045679, A.A. 2016/17

Information concerning the students who enrolled in A.Y. 2016/17

Information on the course unit
Degree course Second cycle degree in
ME1934, Degree course structure A.Y. 2012/13, A.Y. 2016/17
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Degree course track MEDICAL BIOTECHNOLOGIES [002PD]
Number of ECTS credits allocated 6.0
Type of assessment Mark
Course unit English denomination GENETICS
Department of reference Department of Molecular Medicine
Mandatory attendance No
Language of instruction English
Single Course unit The Course unit CANNOT be attended under the option Single Course unit attendance
Optional Course unit The Course unit is available ONLY for students enrolled in MEDICAL BIOTECHNOLOGIES

Teacher in charge LEONARDO SALVIATI MED/03

ECTS: details
Type Scientific-Disciplinary Sector Credits allocated
Core courses MED/03 Medical Genetics 5.0
Core courses MED/03 Medical Genetics 1.0

Course unit organization
Period Second semester
Year 1st Year
Teaching method frontal

Type of hours Credits Teaching
Hours of
Individual study
Lecture 6.0 48 102.0 No turn

Start of activities 27/02/2017
End of activities 09/06/2017
Show course schedule 2019/20 Reg.2012 course timetable

Examination board
Board From To Members of the board
4 Commisisone 2016/17 01/10/2016 30/09/2018 SALVIATI LEONARDO (Presidente)
LOREGIAN ARIANNA (Membro Effettivo)

Prerequisites: Basic Genetics (Mendel's laws, dominance and recessivity, sex linked inheritance, chromosomes)
Structure and replication of DNA
Gene expression and its regulation
Basic molecular biology techniques (PCR, Sanger sequencing, Recombinant DNA...)
Structure of the cell and regulation of the cell cycle
Basic biochemistry
Target skills and knowledge: The course will focus on

Molecular bases
Pathogenetic mechanisms
Diagnostic Techniques
Treatment of genetic diseases
Examination methods: Multiple choice
Assessment criteria: The exam will evaluate the students' knowledge on the topics treated during the lessons, but also the capacity to deal critically with the proposed problems.
Course unit contents: Lesson 1
General Aspects
-Organization of the human genome: genes, pseudogenes, repeated sequencese, SNPs, CNVs
-Genetic tests and their ethical issues

Lesson 2
Population genetics
-Genetic drift. Founder effect. Selection. Hardy-Weinberg Law, Haldane’ s Law, allelic frequencies.

Lesson 3
Mendelian Disorders
-Classification of mutations and their nomenclature
(Promoter, 5’ and 3’ UTR, splicing, missense, synonym, nonsense insertions/deletions, other types)
Nomenclature for reporting mutations

Lesson 4
Mendelian Disorders
-Molecular bases of dominance and recessivity.
-Penetrance and expressivity.
-Semidominant inheritance
-Digenic inheritance

Lesson 5
Techniques for mutation analysis
- Anlysis of genomic DNA vs. mRNA
-Point Mutations (direct sequencing, PCR-RFLP, allele specific PCR, reverse dot-blot, dHPLC, HRM)

Lesson 6
Techniques for mutation analysis
-Deletions/Duplications (Southern Blot, Realtime PCR, MLPA)
-Linkage analysis
-Selected examples (cystic fibrosis)

Lesson 7
Techniques for mutation analysis
-Next generation sequencing in clinical setting
-Exome and genome sequencing

Lesson 8
Techniques employed for validating mutations
-“Classical” acceptance criteria
-In silico analyses, expression systems, hybrid minigenes, allelic frequencies

Lesson 9
Non Mendelian Disorders
-Mitochondrial genetics (maternal inheritance, heteroplasmy, threshold effect, random segregation, nuclear genes involved in the biogenesis of the respiratory chain).

Lesson 10
Non Mendelian Disorders
-Triplet expansion disorders: classification, anticipation, molecular bases and pathogenesis of the most common forms (Huntington disease, SCA1, Myotonic Distrophy, Fragile X and FXTAS, Friedrich Ataxia).
- Genomic imprinting disorders: classification. Uniparental disomy and its implications. Molecular bases of Prader Willi and Angelmann syndromes. Diagnostic techniques.

Lesson 11
Cytogenetics and chromosomal disorders
-Structure of chromosomes
-Classification of chromosomal abnormalities
-Classical citogenetic techinques: Karyotype, FISH

Lesson 12
Cytogenetics and chromosomal disorders
-CGH-Array and its problematics (CNVs, familial abnormalities)
-Contiguous gene syndromes

Lesson 13
Cytogenetics and chromosomal disorders
-Recurrent chromosomal abnormalities and their molecular bases (NAHR, NHEJ)
-Recurrence risk for chromosomal abnormalities

Lesson 14
-Multifactorial disorders
Genes and environment. Polygenic inheritance. Quantitative traits. Hereditability. Twin studies.
Predictive tests

Lesson 15
-Estimation of genetic risk (theoretical vs. empiric)

Lesson 16
-Prenatal diagnosis
-Circulating free fetal DNA and its applications

Lesson 17
-Population screenings (pre and postnatal)

Lesson 18
-Genetic predisposition to Cancer

Lesson 19
Novel paradigms of disease
-Facioscapulohumeral Distrophy Type I and II.
-miRNA mutations

Lesson 20
Molecular pathways
-Marfan syndrome and related disorders
-Alterations of the RAS pathway

Lesson 21
Selected Examples of molecular pathology
-Spinal muscular atrophy
-Cystic fibrosis and related disorders

Lesson 22
Treatment of genetic diseases
Gene therapy, stem cells, and pharmacological approaches

Lesson 23
Pharmacogenetics and Pharmacogenomics

Lesson 24
Planned learning activities and teaching methods: Regular Lessons. Seminars on specific topics
Additional notes about suggested reading: M. Clementi Appunti di Genetica Medica, CLEUP, Padova, (Latest edition)
Strachan P, Read AP, Human Molecular Genetics BIOS scientific Publishers, (Latest edition)
Specific articles and reviews (which will be provided directly to students)
Textbooks (and optional supplementary readings)