Basic knowledge of general and human genetics, cytology and molecular biology
Concept of hereditary, congenital and genetic disease. Number and morphology of human chromosomes.
Genetic tests. Diseases with mutations in single genes with patterns of atypical inheritance (imprinting) Epigenetics
Knowledge of the principles of molecular medical genetics and medical cytogenetics, of the technologies used in molecular genetics laboratories and practical execution of genetic tests for the purposes of laboratory genetic diagnostics. Choice and appropriateness of the genetic test used.
Knowledge and understanding skills: Mechanisms of expression and regulation of genetic information at cellular and molecular level; - the mechanisms of transmission of genetic information.
Ability to apply knowledge and understanding: The course aims to present the innovations obtained in recent years in the field of Medical Genetics and to see their multiple applications in the diagnosis of genetic diseases
Judgment autonomy: The student, through the topics developed in the course of Medical Genetics will acquire a working methodology transferable to different contexts and will be able to analyze the problems posed by clinical and research activity, independently identifying the most suitable and effective methodological approaches for the achievement of the objectives and knowing how to critically evaluate the results obtained
Communication Skills:. The student must be able to hold a critical discussion on the topics covered in the course of Medical Genetics, also developing the ability to transfer information comprehensibly to non-specialist interlocutors.
Learning ability: The activity described should allow the student to develop and organize self-learning courses that allow for ongoing professional training and access to an additional level of training.
1. DALLAPICCOLA B., NOVELLI G. : GENETICA MEDICA ESSENZIALE. IL MINOTAURO.
2. STRACHAN, READ: GENETICA MOLECOLARE Umana (traduzione italiana della IV ed. Inglese). 2012, Zanichelli
3. THOMPSON & THOMPSON, GENETICA IN MEDICINA, IDELSON-GNOCCHI.
4. NERI GENUARDI, GENETICA UMANA E MEDICA, MASSON
5. ARTICOLI SCIENTIFICI SUI DIVERSI ARGOMENTI FORNITI DAL DOCENTE
Concept of hereditary, congenital and genetic disease. Genetic counseling. Mendelian inheritance: genealogical trees where segregate dominant autosomal diseases, autosomal recessive diseases, X-linked recessive diseases, X-linked dominant chromosome-related diseases, mitochondrial diseases.
Number and morphology of human chromosomes: chromosomal anomalies of number and structure. The karyotype, FISH, QF-PCR and MPLA techniques.
Structure of a gene, polymorphisms and the main types of mutation: nucleotide substitutions, deletions and insertions, mutations for gene amplification. The techniques of analysis of gene mutations (PCR, Sanger and New Generation sequencing). Examples of Mendelian pathologies with particular reference to the genotype-phenotype correlation.
Analysis of genealogical trees, analysis of genetic risk.
Genetic tests: classification and diagnostic appropriateness. Psychosocial issues related to genetic tests. Examples of multifactorial pathologies and pathogenetic and molecular bases of these.
Diseases with mutations in single genes with atypical inheritance patterns (imprinting) Epigenetics: definition, biological and pathogenic significance. Population genetics; quantitative genetics, meiotic recombination; mapping of disease genes