Unit INTERGRATED SCIENCES OF HUMAN FUNCTIONS

BIOCHEMISTRY

Code	GP003873
CFU	2
Teacher	Tommaso Beccari
Teachers	Tommaso Beccari
Hours	20 ore - Tommaso Beccari
Learning activities	Base
Area	Scienze biomediche
Academic discipline	BIO/10
Type of study-unit	Obbligatorio (Required)

APPLIED BIOLOGY

Code	GP003871
CFU	2
Teacher	Cinzia Antognelli
Teachers	Cinzia Antognelli
Hours	20 ore - Cinzia Antognelli
Learning activities	Base
Area	Scienze biomediche
Academic discipline	BIO/13
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Living organisms characteristics. Prokaryotic and eukaryotic cells. Flow of genetic information within a biological system and its regulation. Cell cycle and its control. Mutations: types and causes. Reproduction of multicellular living organisms: meiosis and gametogenesis.
Reference texts	R. Roberti, G. Alunni Bistocchi, C. Antognelli, VN Talesa - Biochimica e Biologia per le professioni sanitarie - McGrawHill. Bonaldo, S. Suga, R. Pierantoni, P. Riva, M.G, Romanelli- Biologia e Genetica - EdiSES The teaching materials are also available on Unistudium. Disabled students and/or with DSA are guaranteed all the compensatory and/or dispensatory measures provided for by current legislation in accordance with the University guidelines.
Educational objectives	The Applied Biology module represents one of the first preparatory courses of the Course of study in Obstetrics. As such, the main objective of teaching is to provide students with the foundations to tackle the study of both more complex basic disciplines (Histology, Anatomy, Physiology, Microbiology and Pathology) and specialist disciplines. The main knowledge acquired will concern the integrated study of the cell and living organisms, with emphasis on the: • molecular mechanisms involved in the biogenesis processes of organelles and cellular structures • interactions between cells and cells-extracellular environment • duplication, transmission and expression of genetic information • cell proliferation • basic concepts of general and human genetics.
Prerequisites	In order to understand the contents of the course it is necessary to have knowledge of the basic elements of chemistry.
Teaching methods	The course is organized in classroom lessons (face-to-face) on all course topics.
Other information	Site of the teacher: Department of Medicine and Surgery, Building B, 4th floor, P.le L Severi 1, Sant'Andrea delle Fratte, Perugia. Student reception: the professor is always available to receive students upon request via email (cinzia.antognelli@unipg.it).
Learning verification modality	The exam includes a final written test made up of 7 multiple choise questions and 5 answer options, of which only one is correct, and one open question, to be carried out in 30 minutes. One point is assigned to each correct answer; 0 points are assigned to incorrect or unanswered answers. The test as a whole allows you to ascertain your ability to know and understand the contents of the discipline. Students with DSA and/or disabilities are guaranteed the compensatory and/or dispensatory measures provided for by current legislation and the relevant UNIPG University Regulations.
Extended program	The characteristics of living organisms. Biological macromolecules: proteins, lipids and glucids (general characteristics). Models of cellular organization: prokaryotes and eukaryotes. Viruses: general characteristics. Animal eukaryotic cell. Plasma membrane: structure and functions. The main mechanisms of membrane transport and cellular communication; cytoplasm; ribosomes; rough and smooth endoplasmic reticulum; Golgi apparatus; lysosomes; peroxisomes; mitochondria and the energy problem; cytoskeleton (general characteristics), nucleus and nucleolus. DNA and RNA: structure and function. Organization of chromatin, chromosomes. The eukaryotic gene. Gene expression: transcription, maturation of primary transcripts, genetic code, translation. Regulation of gene expression: general characteristics. Cell cycle: interphase, DNA replication, mitosis. Cell cycle control: check-point and CdK-cyclines. Proto-oncogenes, oncogenes and tumor suppressor. Gene mutations (point mutations, missense, nonsense, neutral mutations), genomic mutations (aneuploidy and polyploidy mutations) and chromosomal mutations (deletion, duplication, inversion, translocation). Human normal and pathological karyotype. Heterochromatinization of the X chromosome. Reproduction of multicellular organisms; meiosis and its biological meaning, gametogenesis (spermatogenesis and oogenesis).
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Objective 3: Health and Wellness.

MEDICAL GENETICS

Code	GP003872
CFU	2
Teacher	Anair Graciela Lema Fernandez
Teachers	Anair Graciela Lema Fernandez
Hours	20 ore - Anair Graciela Lema Fernandez
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/03
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	- Structural and functional organization of genetic material - Elements of cell biology - Types of mutations - Germinal and somatic origin of hereditary characters - Genetics of transmission and expression - Genetics in Medicine - Cytogenetics - Chromosome analysis techniques - Numerical and structural anomalies -Main techniques for the search for mutations in DNA -Mendel's laws and modes of transmission of characters with simple Mendelian inheritance -Autosomal dominant and recessive inheritance -X-linked inheritance -Main characteristics of mitochondrial DNA and matrilineal inheritance - Phenotypic effect of mutations - Fundamental principles of medical genetics - Interaction between genes – Cancer genetics - Genetic counseling, types of genetic tests and calculation of reproductive risk
Reference texts	Genetica Medica Essenziale, Dallapiccola B, Novelli G, 2012.
Educational objectives	The main objective of the teaching is to provide students with the theoretical principles useful for acquiring basic notions on medical genetics and its applications. The main knowledge acquired will be: the structural and functional organization of the human genome. The mechanisms underlying chromosomal, genomic and monogenic pathologies. Understanding the patterns of Mendelian inheritance and its exceptions. Outline the differences between genetic, polygenic and multifactorial diseases. Acquire the basic knowledge to understand the fundamentals of the clinical and diagnostic approach of genetic testing in Medical Genetics. Acquire basic principles on genetic diagnosis procedures and their applications
Prerequisites	The course requires basic biology knowledge (The fundamental molecules of biology, notions on the cell structure, cell cycle, etc.)
Teaching methods	Lectures on all subjects of the couse.
Other information
Learning verification modality	Written test (multiple choice)
Extended program	Part I: Biological basis of human genetics - Structural and functional organization of genetic material - Elements of cell biology - Types of mutations - Germinal and somatic origin of hereditary characters - Genetics of transmission and expression - Genetics in Medicine Part II: Genetic basis of inheritance - Cytogenetics - Chromosome analysis techniques: classical and molecular cytogenetics (FISH, CGH-array) - Numerical chromosomal anomalies - Structural chromosomal anomalies - Molecular basis of chromosomal and genomic anomalies (CNV) - Main techniques to identify DNA mutations Part III: Mendelian inheritance and atypical mechanisms of inheritance - Mendel's laws and modalities of transmission of characters with simple Mendelian inheritance - Autosomal dominant inheritance - Autosomal recessive inheritance - X-linked inheritance; Inactivation of the X chromosome - Main characteristics of mitochondrial DNA and matrilineal inheritance Part IV: Functional aspects - Phenotypic effect of mutations: molecular interpretation of Mendelism - Fundamental principles of medical genetics: pleiotropism; penetrance; expressiveness; genetic heterogeneity: allelic and locus -Interaction between genes: epistaxis; digenic, oligogenic and polygenic pathology - Cancer Genetics Part V: Diagnosis and prevention of genetic diseases - Genetic counseling, types of genetic tests and calculation of reproductive risk
Obiettivi Agenda 2030 per lo sviluppo sostenibile	3