Unit INTERGRATED SCIENCES OF HUMAN FUNCTIONS

BIOCHEMISTRY

Code	GP003873
CFU	2
Teacher	Tommaso Beccari
Teachers	Tommaso Beccari Davide Chiasserini
Hours	20 ore - Tommaso Beccari 1 ore - Davide Chiasserini
Learning activities	Base
Area	Scienze biomediche
Academic discipline	BIO/10
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Principle of basic Biochemistry
Reference texts	Biochimica e Biologia per le professioni sanitarie. McGraw Hill Education
Educational objectives	Understanding the biochemical mechanism of the cell and the necessary medotology
Prerequisites	Inorganic and organic chemistry
Teaching methods	Frontal lessons
Other information	None
Learning verification modality	Written exam
Extended program	Water and biological buffers - amino acids, peptides and proteins - tridimensinal strucure of proteins- protein functions - enzyme and enzyme catalysis - carbohydrates and glycobiology - monosaccharides- disaccharides and polysaccharides - nucleic acid - lipids- storage lipis - structural lipids- biological membranes - membrane transport - biosignaling - bioenergetics and metabolism- glycolisis and gluconeogensis - Krebs cycle - catabolism of fatty acids - aminoacids oxidation and urea cycle - oxidative phosphorilation - biosynthesis of carbohydrates - biosynthesis of aminoacids - hormonal regulation - protein metabolism -

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	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 - McGrawHillP. Bonaldo, S. Suga, R. Pierantoni, P. Riva, M.G, Romanelli- Biologia e Genetica - EdiSES
Educational objectives	The aim of the course is the integrated study of the cell and living organisms, with emphasis on the mechanisms involved in: organelles biogenesis and cellular structures, cell-cell interactions, cell-extracellular matrix interactions, DNA duplication, transmission of the genetic information, gene expression, cell proliferation. The ability to learn, relate and integrate one concept to another will be considered fundamental issues in order to facilitate the understanding of the disciplines provided in the subsequent years of the Degree Course.
Prerequisites	Basic elements of chemistry
Teaching methods	Face-to-face
Other information	Site of the teacher: Nuova sede dei Dipartimenti di Medicina, Edificio B, 4° piano, P.le L Severi 1, Sant'Andrea delle Fratte, Perugia
Learning verification modality	Written examination
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).

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 -Uniparental disomy - Imprinting and bases of epigenetics - Phenotypic effect of mutations - Fundamental principles of medical genetics - Interaction between genes - Multifactorial characters - 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 and open questions)
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 - Uniparental disomy - Genomic imprinting and basis of epigenetics 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 - Multifactorial characters: physiological and pathological Part V: Diagnosis and prevention of genetic diseases - Genetic counseling, types of genetic tests and calculation of reproductive risk