The course is focused on the acquisition of the fundamental principles of medical genetics, genetic diseases, and personalized genomic medicine.

The course will provide students with the knowledge of the mechanisms of genetics in medicine. The course aims to share knowledge on genetic diseases, their mechanisms and therapeutic perspectives. Particular attention is paid to the principles of personalized genomic medicine and to the applicative possibilities of pharmacogenomics in clinical practice.

Program
1. Chromosomes
1.1 Chromatin
1.2 Heterochromatin
1.3 Heterochromatin facoltative and dosage compensation
1.4 Chromosomes during the mitosis
1.5 Chromosomes during the meiosis
2. Gametogenesis and fertilization
2.1 Genes and chromosomes
2.2 Chromosomal sex determination
2.3 Specific mechanism for chromosomal sex determination
3. Cytogenetic
3.1 The normal human karyotype
3.2 Delineation of human karyotype
3.3 Morphology of chromosomes mitotic
3.4 Preparation of chromosomal samples
3.5 Chromosomes banding techniques
3.6 Meiotic chromosomes
4. Chromosomal disorder
4.1 Chromosomal mutations
4.2 Abnormalities of chromosome number and their origins
4.3 Abnormalities of chromosome structure
4.4 Sex chromosome disorders
4.5 X-chromosome inactivation
4.6 X -chromosome linked diseases in females
4.7 Sex chromosome linked diseases in males
5. Study of genealogical trees
5.1 Monogenic disorders
5.2 Autosomal inheritance
5.3 Dominant autosomal characters
5.4 Dominant autosomal recessive
5.5 Sex-linked inheritance
5.6 Dynamic mutation
5.7Genetic basis of variability in drug responses
6. Molecular diagnostics
6.1 Prenatal diagnosis: invasive and non invasive
6.2 Postnatal diagnosis
7. Molecular epidemiology
7.1 Polygenes mapping and oligogenes mapping
7.2 Genetic susceptibility of human diseases
7.3 Developmental genetics and complex phenotypes related: mono-dizygotic twins and joined twins, chimeras, parthenogenesis;
7.4 Genetic control of sexual development
7.5 Sexual differentiation
7.6 Genetic disorders of sex differentiation
8. Genetic testing
8.1 Unknown mutations detection tests
8.2 Scanning of the genome for unknown mutations detection
8.3 Genetics screening
8.4 Hereditary diseases prevention
8.5 Genetic counseling
9. Gene therapy
9.1 Experimental models
9.2 Approaches and protocols
9.3 Cancer genetic
9.4 Background and basic principles
10. Forensic genetics
10.1 Inter-individual variability study
10.2 Extraction methods from tracks/microtracks
10.3 Molecular typing in forensic setting
10.4 Profiles interpretation and background on biostatistician calculus

D1 - Knowledge and ability to understand. The student will show mastery in basic knowledge of molecular genetics, cytogenetics, familial pedigrees, patterns of disease transmission, pharmacogenomics and personalized medicine.

D2 - Ability to apply knowledge and understanding. The student will demonstrate understanding of concepts and theories provided by the course; students will provide examples of genetic diseases (biological, clinical, hereditary, and analytical skills); they will be able to analyze familial pedigrees, identifying patterns of transmission, recurrence risks, available tests.

D3 - Autonomy of judgment.The student will show the ability to use knowledge and concepts that allow to apply logic of the discipline. In particular, students have to be able to identify appropriate personalized medicine strategies in order to administer pharmacogenetic tests; they will simulate the design of diagnostic pathways; they will be able to propose possible solutions to problematic cases.

D4 - Communication skills. The student will show the ability to communicate the knowledge acquired to their colleagues and superiors using appropriate terminology.

D5 - Learning skills. The student will show possession of the learning ability useful for the continuous updating of knowledge in this discipline.

The teaching material prepared by the lecturer in addition to recommended textbooks (such as for instance slides, lecture notes, exercises, bibliography) and communications from the lecturer specific to the course can be found inside the Moodle platform › blended.uniurb.it

The teaching material prepared by the lecturer (such as for instance slides, lecture notes, exercises) and specific communications from the lecturer can be found, together with other supporting activities, inside the Moodle platform › blended.uniurb.it

Teaching

The course includes frontal lessons, exercises, and research programmes

Course books

GIUSEPPE NOVELLI-EMILIANO GIARDINA
GENETICA MEDICA PRATICA-ARACNE EDITRICE

Assessment

Oral exam

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.

Teaching

The course includes research programmes

Course books

GIUSEPPE NOVELLI-EMILIANO GIARDINA
GENETICA MEDICA PRATICA-ARACNE EDITRICE

Assessment

Oral exam

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.