Unit SYSTEMIC PATHOLOGY I

DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES

Code	GP005801
Location	PERUGIA
CFU	1
Teacher	Efisio Puxeddu
Teachers	Paolo Sportoletti (Codocenza) Efisio Puxeddu
Hours	3 ore (Codocenza) - Paolo Sportoletti 9 ore - Efisio Puxeddu
Learning activities	Affine/integrativa
Area	Attività formative affini o integrative
Academic discipline	MED/50
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	- Polymerase chain reaction (PCR) - Real-Time (PCR) - Direct Sanger Sequencing
Reference texts	Pubmed references will be indicated during the lesson
Educational objectives	Ability to understand the techniques and the meaning of molecular diagnostic investigations. Ability to interpret the result of molecular laboratory tests related to specific diseases.
Prerequisites	To be able to understand and face the course, the student must have passed with huge success the exam preparatory described in the regulation on the degree course.
Teaching methods	Face-to-face
Other information	N/A
Learning verification modality	Oral exam
Extended program	- Polymerase chain reaction (PCR) - Real-Time (PCR) - Direct Sanger Sequencing

ENDORCINOLOGY AND METABOLISM DISEASES - MOD. 1

Code	GP005803
Location	PERUGIA
CFU	1
Teacher	Alberto Falorni
Teachers	Alberto Falorni
Hours	12 ore - Alberto Falorni
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)

ENDOCRINOLOGY AND METABOLISM DISEASES - MOD. 2

Code	GP005800
Location	PERUGIA
CFU	1
Teacher	Alberto Falorni
Teachers	Alberto Falorni
Hours	12 ore - Alberto Falorni
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1

Code	GP005798
Location	PERUGIA
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	24 ore - Antonio Orlacchio
Learning activities	Base
Area	Discipline generali per la formazione del medico
Academic discipline	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 & Genomica nelle scienze mediche Authors: Strachan Tom, Goodship Judit, Chinnery Patrick Publisher: Zanichelli (1st Edition - 2016) Genetica umana e medica Authors: Neri Giovanni, Genuardi Maurizio Publisher: Edra Masson (3rd Edition - 2014) Genetica medica essenziale Authors: Dalla Piccola Bruno, Novelli Giuseppe Publisher: CIC (3rd Edition - 2012)
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 a written test with multiple answer choices on the topics listed in the syllabus.
Extended program	- Introduction - Organization and changes in the human genome - Human Chromosomes and mechanisms of formation of chromosomal abnormalities - Methods for molecular analysis of nucleic acids - Mendelian inheritance and fundamental principles of medical genetics - Order of genes on chromosomes - Cytogenetics techniques - Multifactorial characters and epigenetic - Atypical mechanisms of inheritance - Chromosome number abnormalities - Chromosome structural abnormalities - Genetic counseling - Abnormalities of the sex chromosomes - Diseases by defects of genomic imprinting - Defects to the receptor fibroblasts growth factors - Hereditary diseases of the connective tissue - Disorders related to CFTR gene - Genetic defects of the sense organs - Inborn errors of metabolism - Disorders of sexual development - Genetics of epilepsy - Genetics of neuromuscular diseases - Genetic basis of neurodegenerative diseases (monofactorial) - Genetic basis of neurodegenerative diseases (multifactorial) - Congenital defects - Diseases by dynamic mutations - Genetics of mental retardation - Phacomatosis

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 2

Code	GP005799
Location	PERUGIA
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	24 ore - Antonio Orlacchio
Learning activities	Caratterizzante
Area	Discipline pediatriche
Academic discipline	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 & Genomica nelle scienze mediche Authors: Strachan Tom, Goodship Judit, Chinnery Patrick Publisher: Zanichelli (1st Edition - 2016) Genetica umana e medica Authors: Neri Giovanni, Genuardi Maurizio Publisher: Edra Masson (3rd Edition - 2014) Genetica medica essenziale Authors: Dalla Piccola Bruno, Novelli Giuseppe Publisher: CIC (3rd Edition - 2012)
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 a written test with multiple answer choices on the topics listed in the syllabus.
Extended program	- Introduction - Organization and changes in the human genome - Human Chromosomes and mechanisms of formation of chromosomal abnormalities - Methods for molecular analysis of nucleic acids - Mendelian inheritance and fundamental principles of medical genetics - Order of genes on chromosomes - Cytogenetics techniques - Multifactorial characters and epigenetic - Atypical mechanisms of inheritance - Chromosome number abnormalities - Chromosome structural abnormalities - Genetic counseling - Abnormalities of the sex chromosomes - Diseases by defects of genomic imprinting - Defects to the receptor fibroblasts growth factors - Hereditary diseases of the connective tissue - Disorders related to CFTR gene - Genetic defects of the sense organs - Inborn errors of metabolism - Disorders of sexual development - Genetics of epilepsy - Genetics of neuromuscular diseases - Genetic basis of neurodegenerative diseases (monofactorial) - Genetic basis of neurodegenerative diseases (multifactorial) - Congenital defects - Diseases by dynamic mutations - Genetics of mental retardation - Phacomatosis

NEPHROLOGY

Code	GP005802
Location	PERUGIA
CFU	2
Teacher	Gianpaolo Reboldi
Teachers	Gianpaolo Reboldi
Hours	24 ore - Gianpaolo Reboldi
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/14
Type of study-unit	Obbligatorio (Required)

PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLISM DISEASES

Code	GP005804
Location	PERUGIA
CFU	1
Teacher	Alberto Falorni
Teachers	Alberto Falorni
Hours	25 ore - Alberto Falorni
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)

PROFESSIONALISING TRAINING IN NEPHROLOGY

Code	GP005805
Location	PERUGIA
CFU	1
Teacher	Gianpaolo Reboldi
Teachers	Gianpaolo Reboldi
Hours	25 ore - Gianpaolo Reboldi
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Academic discipline	MED/14
Type of study-unit	Obbligatorio (Required)