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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

The integrated course of Medical Genetics, Statistics and English includes the modules of:
Medical Genetics,
Medical Statistics,
English language.

In the discussion of some topics of the program, the principles of the scientific method.

The integrated course has the objective of i) acquiring the basic concepts of population and medical genetics, and their applications for preventive and diagnostic purposes; ii) to provide the theoretical basis for knowing and being able to describe the different types of epidemiological studies, and to acquire the tools for knowing and being able to interpret the fundamental measures used in the epidemiological field; iii) to develop and strengthen grammatical skills at level B1 of the Common European Framework of Reference for Languages. The course will also cover the linguistic skills necessary in the medical-scientific field.

As for the parameters of:
Know:
At the end of the course the student will know:
- Recognize the main characteristics of epidemiological studies and understand the importance of the epidemiological method for research and health organization.
- Know the basics of descriptive and inferential statistics.
- Know the different forms of typical and atypical genetic transmission and the relative molecular bases as well as the methods for highlighting the anomalies present in the various genetic disorders, the factors that govern the allelic distribution in the population and the complex forms of genetic diseases linked to polygenic and multifactorial. Acquire the knowledge relating to prenatal and preimplantation diagnosis approaches, and how to carry out genetic counseling.
- Know the grammatical, syntactic and lexical structures of the general English language and specialist at level B1.

Know-how:
At the end of the course the student will know:
- Use the tools of evidence-based medicine to acquire new knowledge.
- Interpret the main descriptive and association epidemiological measures.
- Read and interpret the results of a clinical study.
- Knowing how to apply genetic principles to the study of hereditary pathological conditions, knowing how to interpret family pedigrees, and choosing the approach to be used in counseling for individuals and families.
- Listen, speak, read and write accurately and fluently in English on various topics of a medical-scientific nature.

Prerequisites

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Modulo: 010216/1 - STATISTICA MEDICA
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Biostatistics:
Basic knowledge of statistics and informatics.


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

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Modulo: 26850 - LINGUA INGLESE
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English:
English at A1 level.

Course programme

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Modulo: 010216/1 - STATISTICA MEDICA
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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.


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Modulo: 015178/2 - GENETICA MEDICA
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MEDICAL GENETICS
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.

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Modulo: 26850 - LINGUA INGLESE
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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

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Modulo: 010216/1 - STATISTICA MEDICA
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The course provides frontal lectures and online assisted teaching. The on-line teaching hours of moodle platform certification service consist in the deepening of some topics presented during the frontal lessons.


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Modulo: 015178/2 - GENETICA MEDICA
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The course provides frontal lectures and online assisted teaching. The on-line teaching hours of moodle platform certification service consist in the deepening of some topics presented during the frontal lessons.

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Modulo: 26850 - LINGUA INGLESE
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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

MEDICAL GENETICS:
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.

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.

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
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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
- Martin Bland, Statistica Medica, Apogeo Ed. 2009.
- Marcello Pagano, Kimberlee Gauvreau, Fondamenti di Biostatistica, Idelson Gnocchi 2003.
- Bernard Rosner, Fundamentals of Biostatistics, Cengage Learning 2011.


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

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Modulo: 26850 - LINGUA INGLESE
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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