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MEDICAL GENETICS, STATISTICS, ENGLISH

Academic year and teacher
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Versione italiana
Academic year
2022/2023
Teacher
MARIO BRAGA
Credits
11
Didactic period
Secondo Semestre

Training objectives

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Modulo: 010216/1 - STATISTICA MEDICA
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The integrated course of Medical Genetics, Biostatistics and English includes the modules of "Medical Genetics", "Population genetics and polygenic and multifactorial inheritance", "Biostatistics" and "English". The Medical Genetics module aims to equip the student with knowledge and provide tools to apply this knowledge in the medical field. The module of Biostatistics aims to: (I) provide theoretical and practical knowledge to understand and describe all types of epidemiological studies; (II) provide a firm grounding in the foundations of probability and statistics, in order to understand and explain the essential measures used in epidemiology.
The English Language course aims at developing and strengthening grammatical competence at the B1 level of the Common European Framework of Reference for languages. The course will also cover the linguistic competence needed in the medico-scientific field. Through lectures and class exercises in English, the course provides students with a balanced knowledge of oral and written comprehension.


Knowledge and understanding:
At the end of the course the student will:
- Know the various forms of typical and atypical genetic transmission and the related molecular foundations as well as the methods for detecting the anomalies present in the human genetic disorders.
- Know the factors that govern the allelic distribution in the population and the complex forms of genetic diseases linked to polygenic and multifactorial characters, the prenatal and preimplantation diagnostic approaches, and the methods of carrying out genetic counseling.
- Know the main characteristics of all epidemiologic studies and understand how the epidemiological methodology is a basis for clinical research and healthcare management.
- Know the foundations of both descriptive and inferential statistics.
- Know grammatical, syntactical and lexical structures of both General and Specialised English at B1 level

Applying knowledge and understanding:
At the end of the course the student will have developed the ability to:
- Apply the genetic principles to the study of hereditary pathological conditions.
- Interpret family pedigrees.
- Perform counseling for individuals and families.
- Appropriately use the tools of Evidence-Based Medicine.
- Describe the main descriptive measures, and the measures of association.
- Read and interpret the results of clinical studies.
- Listen, speak, read and write fluently and accurately in English on various topics in the medico-scientific field.


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Modulo: 015178/2 - GENETICA MEDICA
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The integrated course of Medical Genetics, Biostatistics and English includes the modules of "Medical Genetics", "Population genetics and polygenic and multifactorial inheritance", "Biostatistics" and "English". The Medical Genetics module aims to equip the student with knowledge and provide tools to apply this knowledge in the medical field. The module of Biostatistics aims to: (I) provide theoretical and practical knowledge to understand and describe all types of epidemiological studies; (II) provide a firm grounding in the foundations of probability and statistics, in order to understand and explain the essential measures used in epidemiology.
The English Language course aims at developing and strengthening grammatical competence at the B1 level of the Common European Framework of Reference for languages. The course will also cover the linguistic competence needed in the medico-scientific field. Through lectures and class exercises in English, the course provides students with a balanced knowledge of oral and written comprehension.


Knowledge and understanding:
At the end of the course the student will:
- Know the various forms of typical and atypical genetic transmission and the related molecular foundations as well as the methods for detecting the anomalies present in the human genetic disorders.
- Know the factors that govern the allelic distribution in the population and the complex forms of genetic diseases linked to polygenic and multifactorial characters, the prenatal and preimplantation diagnostic approaches, and the methods of carrying out genetic counseling.
- Know the main characteristics of all epidemiologic studies and understand how the epidemiological methodology is a basis for clinical research and healthcare management.
- Know the foundations of both descriptive and inferential statistics.
- Know grammatical, syntactical and lexical structures of both General and Specialised English at B1 level

Applying knowledge and understanding:
At the end of the course the student will have developed the ability to:
- Apply the genetic principles to the study of hereditary pathological conditions.
- Interpret family pedigrees.
- Perform counseling for individuals and families.
- Appropriately use the tools of Evidence-Based Medicine.
- Describe the main descriptive measures, and the measures of association.
- Read and interpret the results of clinical studies.
- Listen, speak, read and write fluently and accurately in English on various topics in the medico-scientific field.

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Modulo: 26850 - LINGUA INGLESE
------------------------------------------------------------
The integrated course of Medical Genetics, Biostatistics and English includes the modules of "Medical Genetics", "Population genetics and polygenic and multifactorial inheritance", "Biostatistics" and "English". The Medical Genetics module aims to equip the student with knowledge and provide tools to apply this knowledge in the medical field. The module of Biostatistics aims to: (I) provide theoretical and practical knowledge to understand and describe all types of epidemiological studies; (II) provide a firm grounding in the foundations of probability and statistics, in order to understand and explain the essential measures used in epidemiology.
The English Language course aims at developing and strengthening grammatical competence at the B1 level of the Common European Framework of Reference for languages. The course will also cover the linguistic competence needed in the medico-scientific field. Through lectures and class exercises in English, the course provides students with a balanced knowledge of oral and written comprehension.


Knowledge and understanding:
At the end of the course the student will:
- Know the various forms of typical and atypical genetic transmission and the related molecular foundations as well as the methods for detecting the anomalies present in the human genetic disorders.
- Know the factors that govern the allelic distribution in the population and the complex forms of genetic diseases linked to polygenic and multifactorial characters, the prenatal and preimplantation diagnostic approaches, and the methods of carrying out genetic counseling.
- Know the main characteristics of all epidemiologic studies and understand how the epidemiological methodology is a basis for clinical research and healthcare management.
- Know the foundations of both descriptive and inferential statistics.
- Know grammatical, syntactical and lexical structures of both General and Specialised English at B1 level

Applying knowledge and understanding:
At the end of the course the student will have developed the ability to:
- Apply the genetic principles to the study of hereditary pathological conditions.
- Interpret family pedigrees.
- Perform counseling for individuals and families.
- Appropriately use the tools of Evidence-Based Medicine.
- Describe the main descriptive measures, and the measures of association.
- Read and interpret the results of clinical studies.
- Listen, speak, read and write fluently and accurately in English on various topics in the medico-scientific field.

Prerequisites

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Modulo: 010216/1 - STATISTICA MEDICA
------------------------------------------------------------
Medical Genetics:
Basic elements of biology and statistics.

Biostatistics:
Basic knowledge of statistics and informatics.

English:
English at A2 level.


------------------------------------------------------------
Modulo: 015178/2 - GENETICA MEDICA
------------------------------------------------------------
Medical Genetics:
Basic elements of biology and statistics.

Biostatistics:
Basic knowledge of statistics and informatics.

English:
English at A2 level.


------------------------------------------------------------
Modulo: 26850 - LINGUA INGLESE
------------------------------------------------------------
Medical Genetics:
Basic elements of biology and statistics.

Biostatistics:
Basic knowledge of statistics and informatics.

English:
English at A1 level.

Course programme

------------------------------------------------------------
Modulo: 010216/1 - STATISTICA MEDICA
------------------------------------------------------------
MEDICAL GENETICS/POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HERITABILITY
General concepts: genes and alleles, genotype-phenotype. Mendel's laws. Human Genetics Databases. Molecular basis of genetic transmission. Gene mutations. The human genome and genetic polymorphisms.
HEREDITARY TRANSMISSION MODELS OF MONOGENIC GENETIC DISEASES: autosomal dominant, autosomal recessive, X-linked dominant and recessive diseases.
ATYPICAL HEREDITARY MECHANISMS: multiple alleles and codominance; genomic imprinting.
DYNAMIC MUTATION DISEASES., POPULATION GENETICS: allelic and genotypic frequencies, Hardy-Weinberg equilibrium. Hardy-Weinberg balance disturbance factors.
GENETICS OF COMPLEX DISEASES: polygenic and multifactorial characteristics; differences with monogenic diseases. Continuous quantitative characters and semiquantitative threshold characters. Heritability of quantitative traits: phenotypic variability, genetic variability and environmental variability.
CANCER GENETICS. Mechanisms of heritability of cancer. Description of the different forms of hereditary neoplastic syndromes that predispose to the onset of malignancies in humans.
GENETIC COUNSELING AND APPLIED BIOINFORMATICS
RARE DISEASES: DIAGNOSTICS AND ADVANCED THERAPIES
HEMOGLOBINOPATHIES AND THALASSEMIA
CYSTIC FIBROSIS and pathologies related to the CFTR gene.
NEUROMUSCULAR PATHOLOGIES: classification, clinical evaluations and laboratory investigations. Molecular diagnosis of muscular dystrophies and genes involved.
HEREDITARY CARDIAC DISEASES: genetic basis and molecular diagnosis.
CHROMOSOME SYNDROMES AND GENOMIC DISORDERS: numerical and structural anomalies.
PRENATAL DIAGNOSIS OF GENETIC DISEASE: Villocentesis. Amniocentesis. Cordocentesis. Cytogenetic analysis, Molecular analysis. Preimplantation genetic diagnosis.

BIOSTATISTICS:
Epidemiological methods and the aims of the epidemiology.
Main study designs: observational (ecological, cross-sectional, case-control, cohort), and experimental (randomized trials).
Systematic reviews and meta-analysis.
Searching for the scientific evidence.
Importance of the epidemiological approach for research and healthcare management.
Descriptive epidemiological measures: rates and indicators.
Measures of risk and association. Absolute and relative risk.
Statistical methods.
Health outcomes and their distribution.
Descriptive statistics: central tendency and variability measures.
Importance of statistical inference and sample size: point estimate, confidence intervals, p-value.
Interpreting the results of a clinical study.

ENGLISH
GENERAL ENGLISH: grammar at level B1 of the Common European Frame for Languages to introduce the principal phonological, morphological, sintactic and semantic aspects of the English language.
The grammar module will face the following topics:
Present Tenses
Past Tenses
Present perfect and past
Future Tenses
Modals
Passive form
Reported speech
Articles and nouns
Pronouns and determiners
Relative Pronouns and Relative Clauses
Adjectives and Adverbs
Comparatives and Superlatives


ESP ENGLISH: Overview of the topics that will be covered:
Planning a career in science and applying for funding
Writing a scientific CV
Communicating with the scientific community
Discussing results: writing and organizing the discussion
Presenting results: writing an abstract and attending conferences
Using evidence in arguing a point and doing a review
Describing data, materials and methods
Content Specific Vocabulary



------------------------------------------------------------
Modulo: 015178/2 - GENETICA MEDICA
------------------------------------------------------------
MEDICAL GENETICS / POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HEREDITARITY
GENERAL CONCEPTS: genes and alleles, geno-phenotype. Mendel's laws. Human Genetics Database. Molecular basis of genetic transmission. Gene mutations. Genome and polymorphisms. TECHNIQUES FOR THE ANALYSIS OF GENE MUTATIONS AND POLYMORPHISMS: for single gene and for multiple genes. GENETIC CONSULTING. RARE DISEASES. HEREDITARY TRANSMISSION MODELS OF MONOGENIC GENETIC DISEASES: autosomal dominant, autosomal recessive, X-linked dominant and recessive diseases. penetrance and expressiveness. HEMOGLOBINOPATHIES. CYSTIC FIBROSIS. NEUROMUSCULAR PATHOLOGIES. ATYPICAL MECHANISMS OF INHERITANCE: multiple alleles and codominance; genomic imprinting. DYNAMIC MUTATION DISEASES. MITOCHONDRIAL DISEASES. POPULATION GENETICS: allelic and genotypic frequencies, Hardy-Weinberg equilibrium. Disturbing factors of the Hardy-Weinberg equilibrium. GENETICS OF COMPLEX DISEASES: polygenic and multifactorial characters; modifying genes, digenic characters, gene-environment interaction. Continuous quantitative characters and semi-quantitative threshold characters; multifactorial diseases with threshold model; family aggregation and relative risk. Family correlation and heritability: twin studies; multifactorial congenital anomalies; linkage analysis, case / control association studies and case / parent triads; genome-wide association studies, immunogenetics and autoimmune diseases. PHARMACOGENETICS. ONCOLOGICAL GENETICS. Cancer heritability mechanisms. Description of hereditary neoplastic syndromes that predispose to the onset of cancer in humans. CHROMOSOMAL SYNDROMES AND GENOMIC DISORDERS: numerical and structural anomalies. Traditional and molecular cytogenetic techniques. PRENATAL DIAGNOSIS OF GENETIC DISEASE: Villocentesis. Amniocentesis. Cordocentesis. Cytogenetic analyzes. Preimplantation Genetic Diagnosis.

BIOSTATISTICS:
Epidemiological methods and the aims of the epidemiology.
Main study designs: observational (ecological, cross-sectional, case-control, cohort), and experimental (randomized trials).
Systematic reviews and meta-analysis.
Searching for the scientific evidence.
Importance of the epidemiological approach for research and healthcare management.
Descriptive epidemiological measures: rates and indicators.
Measures of risk and association. Absolute and relative risk.
Statistical methods.
Health outcomes and their distribution.
Descriptive statistics: central tendency and variability measures.
Importance of statistical inference and sample size: point estimate, confidence intervals, p-value.
Interpreting the results of a clinical study.

ENGLISH
GENERAL ENGLISH: grammar at level B1 of the Common European Frame for Languages to introduce the principal phonological, morphological, sintactic and semantic aspects of the English language.
The grammar module will face the following topics:
Present Tenses
Past Tenses
Present perfect and past
Future Tenses
Modals
Passive form
Reported speech
Articles and nouns
Pronouns and determiners
Relative Pronouns and Relative Clauses
Adjectives and Adverbs
Comparatives and Superlatives


ESP ENGLISH: Overview of the topics that will be covered:
Planning a career in science and applying for funding
Writing a scientific CV
Communicating with the scientific community
Discussing results: writing and organizing the discussion
Presenting results: writing an abstract and attending conferences
Using evidence in arguing a point and doing a review
Describing data, materials and methods
Content Specific Vocabulary

------------------------------------------------------------
Modulo: 26850 - LINGUA INGLESE
------------------------------------------------------------
MEDICAL GENETICS/POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HERITABILITY
General concepts: genes and alleles, genotype-phenotype. Mendel's laws. Human Genetics Databases. Molecular basis of genetic transmission. Gene mutations. The human genome and genetic polymorphisms.
HEREDITARY TRANSMISSION MODELS OF MONOGENIC GENETIC DISEASES: autosomal dominant, autosomal recessive, X-linked dominant and recessive diseases.
ATYPICAL HEREDITARY MECHANISMS: multiple alleles and codominance; genomic imprinting.
DYNAMIC MUTATION DISEASES., POPULATION GENETICS: allelic and genotypic frequencies, Hardy-Weinberg equilibrium. Hardy-Weinberg balance disturbance factors.
GENETICS OF COMPLEX DISEASES: polygenic and multifactorial characteristics; differences with monogenic diseases. Continuous quantitative characters and semiquantitative threshold characters. Heritability of quantitative traits: phenotypic variability, genetic variability and environmental variability.
CANCER GENETICS. Mechanisms of heritability of cancer. Description of the different forms of hereditary neoplastic syndromes that predispose to the onset of malignancies in humans.
GENETIC COUNSELING AND APPLIED BIOINFORMATICS
RARE DISEASES: DIAGNOSTICS AND ADVANCED THERAPIES
HEMOGLOBINOPATHIES AND THALASSEMIA
CYSTIC FIBROSIS and pathologies related to the CFTR gene.
NEUROMUSCULAR PATHOLOGIES: classification, clinical evaluations and laboratory investigations. Molecular diagnosis of muscular dystrophies and genes involved.
HEREDITARY CARDIAC DISEASES: genetic basis and molecular diagnosis.
CHROMOSOME SYNDROMES AND GENOMIC DISORDERS: numerical and structural anomalies.
PRENATAL DIAGNOSIS OF GENETIC DISEASE: Villocentesis. Amniocentesis. Cordocentesis. Cytogenetic analysis, Molecular analysis. Preimplantation genetic diagnosis.

BIOSTATISTICS:
Epidemiological methods and the aims of the epidemiology.
Main study designs: observational (ecological, cross-sectional, case-control, cohort), and experimental (randomized trials).
Systematic reviews and meta-analysis.
Searching for the scientific evidence.
Importance of the epidemiological approach for research and healthcare management.
Descriptive epidemiological measures: rates and indicators.
Measures of risk and association. Absolute and relative risk.
Statistical methods.
Health outcomes and their distribution.
Descriptive statistics: central tendency and variability measures.
Importance of statistical inference and sample size: point estimate, confidence intervals, p-value.
Interpreting the results of a clinical study.

ENGLISH
GENERAL ENGLISH: grammar at level B1 of the Common European Frame for Languages to introduce the principal phonological, morphological, sintactic and semantic aspects of the English language.
The grammar module will face the following topics:
Present Tenses
Past Tenses
Present perfect and past
Future Tenses
Modals
Passive form
Reported speech
Articles and nouns
Pronouns and determiners
Relative Pronouns and Relative Clauses
Adjectives and Adverbs
Comparatives and Superlatives


ESP ENGLISH: Overview of the topics that will be covered:
Planning a career in science and applying for funding
Writing a scientific CV
Communicating with the scientific community
Discussing results: writing and organizing the discussion
Presenting results: writing an abstract and attending conferences
Using evidence in arguing a point and doing a review
Describing data, materials and methods
Content Specific Vocabulary


Didactic methods

------------------------------------------------------------
Modulo: 010216/1 - STATISTICA MEDICA
------------------------------------------------------------
The module of Genetica medica / genetica delle popolazioni e ereditarietà poligenica e multifattoriale offers Class lectures and online assisted teaching.

The module of Biostatistics offers both frontal lectures and on-line assisted teaching. The on-line teaching hours, provided by a moodle platform certification service, give insights on some topics presented during frontal lessons.

The module of English offers both pre-recorded classes and online assisted teaching. The online teaching hours, available on Classroom, provide several exercises to practice the topics taught in the frontal lessons.

------------------------------------------------------------
Modulo: 015178/2 - GENETICA MEDICA
------------------------------------------------------------
The module of "Medical Genetics / Population Genetics and polygenic and multifactorial inheritance" offers Class lectures and online assisted teaching.

The module of Biostatistics offers both frontal lectures and on-line assisted teaching. The on-line teaching hours, provided by a moodle platform certification service, give insights on some topics presented during frontal lessons.

The module of English offers both pre-recorded classes and online assisted teaching. The online teaching hours, available on Classroom, provide several exercises to practice the topics taught in the frontal lessons.

------------------------------------------------------------
Modulo: 26850 - LINGUA INGLESE
------------------------------------------------------------
The module of Genetica medica / genetica delle popolazioni e ereditarietà poligenica e multifattoriale offers Class lectures and online assisted teaching.

The module of Biostatistics offers both frontal lectures and on-line assisted teaching. The on-line teaching hours, provided by a moodle platform certification service, give insights on some topics presented during frontal lessons.

The module of English offers both pre-recorded classes and online assisted teaching. The online teaching hours, available on Classroom, provide several exercises to practice the topics taught in the frontal lessons.

Learning assessment procedures

Written exam with multiple choice questions, but an oral examination can be scheduled after the written one. The written exams can be carried out remotely (through digital media) or in presence, depending on the regulatory and / or epidemiological context.

MEDICAL GENETICS/POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HERITABILITY:
Written exam with 31 multiple choice questions. For each question there are 4/5 possible answers, of which only one correct. All questions will be related to the educational objectives of the teaching subjects. Each correct answer will be evaluated 1.0 point. No penalty for incorrect or no answers. The final score is calculated as follows: 30 with laude for 31 correct answers; 30 for 30 correct answers, 29 for 29 correct answers, and so on. Time allowed: not more than 40 minutes. The written exams may be carried out remotely (through digital media) or in presence, depending on the regulatory and / or epidemiological context.

BIOSTATISTICS:
Written exam with multiple-choice questions, but an oral examination can be scheduled after the written one. For each question, there may be one to four correct answers. Half of the score of each question will be subtracted for any wrong or missing correct answer. The entire point assigned to a question will be cut if two or more answers are wrong, or correct answers are missing. Time: 60 minutes. The written exams may be carried out remotely (through digital media) or in presence, depending on the regulatory and / or epidemiological context.

ENGLISH:
Written exam with 31 multiple-choice questions. Each question is given 1 point if correct; wrong or no answers 0 points. Pass mark is 18/30. Students are allowed 30 minutes for the exam. The written exam may be carried out remotely or in presence, depending on the regulatory and / or epidemiological context.

The final mark will be the weighted average of the scores achieved in each module.

Reference texts

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Modulo: 010216/1 - STATISTICA MEDICA
------------------------------------------------------------
MEDICAL GENETICS/POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HERITABILITY:
G. Neri, M. Genuardi – Genetica Umana e Medica – 4° edizione, Edizioni Edra, Milano.

BIOSTATISTICS:
- Online material provided by the teacher.
- Book: Manzoli L, Villari P, Boccia A. Epidemiologia e Management in Sanità. Elementi di Metodologia (2° Ed.). Edi-Ermes, 2015

INGLESE:
- R. Murphy, English Grammar in Use. A self-study reference and practice book for intermediate learners of English. 5th edition. Cambridge University Press (2019). ISBN: 9781108457651
- T. Armer, Cambridge English for Scientists, Cambridge University Press (2011). ISBN: 9780521154093



------------------------------------------------------------
Modulo: 015178/2 - GENETICA MEDICA
------------------------------------------------------------
MEDICAL GENETICS/POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HERITABILITY:
G. Neri, M. Genuardi – Genetica Umana e Medica – 4° edizione, Edizioni Edra, Milano.

BIOSTATISTICS:
- Online material provided by the teacher.
- Book: Manzoli L, Villari P, Boccia A. Epidemiologia e Management in Sanità. Elementi di Metodologia (2° Ed.). Edi-Ermes, 2015

INGLESE:
- R. Murphy, English Grammar in Use. A self-study reference and practice book for intermediate learners of English. 5th edition. Cambridge University Press (2019). ISBN: 9781108457651
- T. Armer, Cambridge English for Scientists, Cambridge University Press (2011). ISBN: 9780521154093



------------------------------------------------------------
Modulo: 26850 - LINGUA INGLESE
------------------------------------------------------------
MEDICAL GENETICS/POPULATION GENETICS AND POLYGENIC AND MULTIFACTORIAL HERITABILITY:
G. Neri, M. Genuardi – Genetica Umana e Medica – 4° edizione, Edizioni Edra, Milano.

BIOSTATISTICS:
- Online material provided by the teacher.
- Book: Manzoli L, Villari P, Boccia A. Epidemiologia e Management in Sanità. Elementi di Metodologia (2° Ed.). Edi-Ermes, 2015

INGLESE:
- R. Murphy, English Grammar in Use. A self-study reference and practice book for intermediate learners of English. 5th edition. Cambridge University Press (2019). ISBN: 9781108457651
- T. Armer, Cambridge English for Scientists, Cambridge University Press (2011). ISBN: 9780521154093