GENETICA MEDICA E BIOTECNOLOGIE APPLICATE ALLA GENETICA MEDICA M - Z

At the end of the Course the students should:

• Describe the different genetic variations of the human genome, and explain their role in health and disease.

• Make the analysis of pedigrees and understand the principles of inheritance, for the calculation of genetic risk in a range of genetic diseases and modes of inheritance.

• Include the items of population genetics for the calculation of genetic risk based on allelic frequency within the population.

• Know nonmendelian mechanisms, such as decreased penetrance and variable expressivity, uniparental disomy, mosaicism, imprinting and dynamic mutations.

• Understand the molecular bases of developmental genetics and cancer.

• Know the principles of genetic counseling and pharmacogenetics.

• Grasp the fundamentals of main genetic tests.

Front lessons.

If teaching will be shifted to mixed or remote mode, the needed amendments will be pursued, for the correct accomplishment of the program shown in the syllabus.

Achievement of the educational goals provided by the introductory courses: Genetics BIO/18 and Principles of general pathology MED/04.

Mandatory attendance 

A) Fundamentals of DNA, Chromosomes and Cells

a. Structure and Function of Nucleic Acids

b. Structure and Function of Chromosomes

c. DNA and Chromosomes in Cell Division and the Cell Cycle

B) Fundamentals of Gene Structure, Gene Expression, and Human Genome Organization

a. Protein-coding Genes: Structure and Expression

b. RNA Genes and Noncoding RNA

c. Details and Meaning of the Human Genome

d. Electronic Resources for the Interrogation of the Human Genome Sequence and Gene Products

e. The organization and evolution of the Human Genome

C) Principles underlying Core Genetic Technologies

a. DNA Cloning

b. Polymerase Chain Reaction (PCR)

c. Nucleic Acid Hybridization

d. DNA Sequencing

D) Principles of Genetic Variation

a. DNA Sequence Variation Origins and DNA Repair

b. Population Genomics and the Scale of Human Genetic Variation

c. Functional Genetic Variation and Protein Polymorphism

d. Extraordinary Genetic Variation in the Immune System

E) Single-Gene Disorders: Inheritance Patterns, Phenotype Variability, and Allele Frequencies

a. Terminology, Electronic Resources, and Pedigrees

b. Mendelian and Mitochondrial DNA Inheritance Patterns

c. Uncertainity, Heterogeneity, and Variable Expression of Mendelian Phenotypes

d. Allele Frequencies in Populations

F) Principles of Gene Regulation and Epigenetics

a. Genetic Regulation of Gene Expression

b. Chromatin Modification and Epigenetic Factors in Gene Regulation

c. Abnormal Epigenetic Regulation in Mendelian and Imprinting Disorders

G) The Pathogenic Role of Genetic Variation

a. An Overview of how Genetic Variation results in Disease

b. Pathogenic Nucleotide Substitutions and Tiny Insertions and Deletions

c. Pathogenic Variation in Short Tandem Repeat Copy Number

d. Pathogenic Variation in Long Tandem Repeats and Interspersed Repeats

e. Chromosome Abnormalities and Copy Number Variants

f. Molecular Pathology of Mitochondrial Disorders

g. Effects on Phenotype of Pathogenic Variation in Nuclear DNA

h. The Protein Structure Perspective of Molecular Pathology

H) The Identification of Disease Genes and Genetic Susceptibility to Complex Diseases

a. The Identification of Genes in Monogenic Disorders

b. The Identification of Genetic Susceptibility to Complex Diseases

c. The Genetic Architecture of Complex Disease and the Contribution of Environment and Epigenetics

I) Genetic and Genomic Testing in Healthcare: Practical and Ethical Aspects

a. Overview of Genetic Testing

b. Genetic Testing for Chromosome Abnormalities and Pathogenic Structural Variation

c. Genetic Testing for Pathogenic Point Mutations and DNA Methylation

d. Genetic Counseling and Testing Services: Practical Applications

e. Ethical, Legal, and Societal Issues (ELSI) in Genetic Testing and Counseling

Strachan and Lucassen. Genetis and Genomics in Medicine. Second Edition, 2023, CRC presso, Taylor and Francis Group.

Oral test/examination

The test will be a conversation where two-four questions will be asked by the teacher on at least two topics of the program. The test will acknowledge: i) the rate of knowledge of medical genetics; ii) the ability of problem solving within the field of Medical Genetics; iii) the clarity of speech; iv) the appropriate scientific medical wording.

The final marks will be given according to the following criteria:

29-30 cum laude: the student has a thorough knowledge of medical genetics, can quickly and correctly understand and critically analyze the provided scenarios, solving on his/her own complex issues; has brilliant communication skills, and masters scientific medical wording.

26-28: the student has a good knowledge of medical genetics, can understand and critically and straighforwardly analyze the provided scenarios, solving almost on his/her own complex issues, and shows clearly the topics with an appropriate scientific medical wording.

22-25: the student has a discrete knowledge of medical genetics, but restricted to the main topics; can critically, but not ever straightforwardly, understand and analyze the provided scenarios.

18-21: the student has the minimal knowledge of medical genetics, has a modest ability of critically understanding and analyzing the provided scenarios, and shows with a sufficient clarity the topics, but a poorly developed scientific medical wording.

Failed test/examination: the student does not show the minimal knowledge of the main topics of the Course. The ability of using the scientific medical wording is very poor or absent, and cannot apply on his/her own the acquired knowledge.

1) Autosomal dominant inheritance

2) Autosomal recessive inheritance

3) X-linked inheritance

4) Mitochondrial inheritance

5) Dynamic mutations

6) Imprinting

7) Missense variants

8) Nonsense variants

9) Frameshift variants

10) Chromosomal anomalies

11) Multifactorial inheritance

12) Penetrance

13) Expressivity

14) Genetic counseling

15) Prenatal diagnosis techniques

16) Genetic tests