Unit SYSTEMIC PATHOLOGY I

DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES

Code	GP005886
Location	TERNI
CFU	1
Teacher	Giovanni Luca
Teachers	Giovanni Luca
Hours	12.5 ore - Giovanni Luca
Learning activities	Affine/integrativa
Area	Attività formative affini o integrative
Sector	MED/50
Type of study-unit	Obbligatorio (Required)

ENDOCRINOLOGY AND METABOLISM DISEASES

Code	GP005885
Location	TERNI
CFU	2
Teacher	Giovanni Luca
Teachers	Giovanni Luca
Hours	25 ore - Giovanni Luca
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Sector	MED/13
Type of study-unit	Obbligatorio (Required)

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1

Code	GP005882
Location	TERNI
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	25 ore - Antonio Orlacchio
Learning activities	Base
Area	Discipline generali per la formazione del medico
Sector	MED/03
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Structural and functional organization of the human genome. DNA mutations and their correlation with: i) mode of inheritance; ii) diagnostic procedures; iii) pathogenetic role; iv) clinical manifestations. Classification of genetic diseases (Mendelian inheritance, multifactorial, chromosomal, and mitochondrial). Atypical inheritance. Imprinting defects. Taking care of the patient and/or the family with hereditary disease: "genetic counseling." General and specific criteria with reference to the different clinical conditions. Genetic counseling before and after genetic testing. The causal treatment of genetic diseases.
Reference texts	Genetica umana e medica Authors: Neri Giovanni, Genuardi Maurizio Publisher: Edra Masson (5th Edition - 2024) Genetica & Genomica nelle scienze mediche Authors: Strachan Tom, Read Andrew P. Publisher: UTET (3rd Edition - 2021) Genetica Medica Authors: Dallapiccola Bruno, Novelli Giuseppe Publisher: Edizioni Scientifiche Falco (4th Edition - 2022)
Educational objectives	To know the contents and methods of communication of the genetic counseling. To recognize the clinical manifestations of the major classes of genetic diseases with prenatal and post-natal care. To be able to correlate the clinical phenotype with the corresponding biological causal factors (phenotype-genotype correlation) with the following purposes: 1) setting of an analytical path, 2) identification of mutations responsible for the disease (etiologic diagnosis) and 3) interpretation of the results for diagnostic purposes, assessment of prognosis, and clinical follow-up, 4) risk assessment procreative and relatives of the proband (risk of recurrence), based on the model of inheritance; 5) planning of interventions aimed to prevention.
Prerequisites	The student must have argued with success the examination of "General Pathology". Furthermore, must have acquired a good research methodology.
Teaching methods	The teaching will be carried out with face-to-face and practical lessons that will cover the entire program of study.
Other information	Oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, will be made available to students, in pdf format for download, through a dedicated homepage of the University of Perugia. During the whole Academic Year, students may request by e-mail personal reception to the teacher.
Learning verification modality	The examination will consist of an oral test on the topics listed in the syllabus.
Extended program	The Basics of Human Genetics - Introduction - Organization and changes in the human genome - Methods for molecular analysis of nucleic acids - Human Chromosomes and mechanisms of formation of chromosomal abnormalities - Cytogenetics techniques - Mendelian inheritance and fundamental principles of medical genetics - Atypical mechanisms of inheritance - Order of genes on chromosomes and population genetics - Multifactorial characters and epigenetics - Genetic counseling Genetics in Clinical Practice - Chromosome number abnormalities - Chromosome structural abnormalities - Abnormalities of the sex chromosomes - Diseases by defects of genomic imprinting - Genetic basis of neurodegenerative diseases (monofactorial) - Genetic basis of neurodegenerative diseases (multifactorial) - Diseases by dynamic mutations - Genetics of neuromuscular diseases - Genetics of epilepsy - Genetics of mental retardation - Defects to the receptor fibroblasts growth factors - Hereditary diseases of the connective tissue - Phacomatosis - Inborn errors of metabolism - Disorders related to CFTR gene - Genetic defects of the sense organs - Disorders of sexual development - Congenital defects
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Quality education

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 2

Code	GP005883
Location	TERNI
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	25 ore - Antonio Orlacchio
Learning activities	Caratterizzante
Area	Discipline pediatriche
Sector	MED/03
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Structural and functional organization of the human genome. DNA mutations and their correlation with: i) mode of inheritance; ii) diagnostic procedures; iii) pathogenetic role; iv) clinical manifestations. Classification of genetic diseases (Mendelian inheritance, multifactorial, chromosomal, and mitochondrial). Atypical inheritance. Imprinting defects. Taking care of the patient and/or the family with hereditary disease: "genetic counseling." General and specific criteria with reference to the different clinical conditions. Genetic counseling before and after genetic testing. The causal treatment of genetic diseases.
Reference texts	Genetica umana e medica Authors: Neri Giovanni, Genuardi Maurizio Publisher: Edra Masson (5th Edition - 2024) Genetica & Genomica nelle scienze mediche Authors: Strachan Tom, Read Andrew P. Publisher: UTET (3rd Edition - 2021) Genetica Medica Authors: Dallapiccola Bruno, Novelli Giuseppe Publisher: Eidzioni Scientifiche Falco (4th Edition - 2022)
Educational objectives	To know the contents and methods of communication of the genetic counseling. To recognize the clinical manifestations of the major classes of genetic diseases with prenatal and post-natal care. To be able to correlate the clinical phenotype with the corresponding biological causal factors (phenotype-genotype correlation) with the following purposes: 1) setting of an analytical path, 2) identification of mutations responsible for the disease (etiologic diagnosis) and 3) interpretation of the results for diagnostic purposes, assessment of prognosis, and clinical follow-up, 4) risk assessment procreative and relatives of the proband (risk of recurrence), based on the model of inheritance; 5) planning of interventions aimed to prevention.
Prerequisites	The student must have argued with success the examination of "General Pathology". Furthermore, must have acquired a good research methodology.
Teaching methods	The teaching will be carried out with face-to-face and practical lessons that will cover the entire program of study.
Other information	Oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, will be made available to students, in pdf format for download, through a dedicated homepage of the University of Perugia. During the whole Academic Year, students may request by e-mail personal reception to the teacher.
Learning verification modality	The examination will consist of an oral test on the topics listed in the syllabus.
Extended program	The Basics of Human Genetics - Introduction - Organization and changes in the human genome - Methods for molecular analysis of nucleic acids - Human Chromosomes and mechanisms of formation of chromosomal abnormalities - Cytogenetics techniques - Mendelian inheritance and fundamental principles of medical genetics - Atypical mechanisms of inheritance - Order of genes on chromosomes and population genetics - Multifactorial characters and epigenetics - Genetic counseling Genetics in Clinical Practice - Chromosome number abnormalities - Chromosome structural abnormalities - Abnormalities of the sex chromosomes - Diseases by defects of genomic imprinting - Genetic basis of neurodegenerative diseases (monofactorial) - Genetic basis of neurodegenerative diseases (multifactorial) - Diseases by dynamic mutations - Genetics of neuromuscular diseases - Genetics of epilepsy - Genetics of mental retardation - Defects to the receptor fibroblasts growth factors - Hereditary diseases of the connective tissue - Phacomatosis - Inborn errors of metabolism - Disorders related to CFTR gene - Genetic defects of the sense organs - Disorders of sexual development - Congenital defects
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Quality education

NEPHROLOGY

Code	GP005887
Location	TERNI
CFU	2
Teacher	Giacomo Pucci
Teachers	Giacomo Pucci
Hours	25 ore - Giacomo Pucci
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Sector	MED/14
Type of study-unit	Obbligatorio (Required)

PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLIC DISEASES

Code	GP005888
Location	TERNI
CFU	1
Teacher	Giovanni Luca
Teachers	Giovanni Luca
Hours	25 ore - Giovanni Luca
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Sector	MED/13
Type of study-unit	Obbligatorio (Required)

PROFESSIONALISING TRAINING IN NEPHROLOGY

Code	GP005889
Location	TERNI
CFU	1
Teacher	Giacomo Pucci
Teachers	Giacomo Pucci
Hours	25 ore - Giacomo Pucci
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Sector	MED/14
Type of study-unit	Obbligatorio (Required)