The educational objectives of the course are: to make the student able to know the basic mechanisms of human inheritance modes and pathologies; to assess whether a disease has a genetically determined background; to have a broad vision of Mendelian genetic diseases but also of complex diseases with multifactorial etiology, in the context of the full family pedigree. As learning outcomes, we expect to train a future clinician who has the ability to apply the basic elements of medical genetics in his clinical practice, in a modern context of precision medicine.
Prerequisiti
None
Metodi didattici
Frontal lessons; the teaching material will be made available to the students; the lessons will be organized in such a way that all the topics are illustrated by practical examples that demonstrate to students how the topic under discussion may have a practical application in their future in their professional activity. Teacher / students interaction will be stimulated as much as possible. During the lessons the student will learn the utility of several bionformatic tools useful in clinical genetics.
Verifica Apprendimento
The exam can only be taken by those who have attended at least 75% of the lesson hours and after positive assessment for General Biology. Written exam lasting 45 minutes consisting of 31 multiple choice questions (4 answer options, only one correct; no penalty for incorrect answers; one point each correct answer). Evaluation scale 0-31 (30 with honors). The result of the exam will be published on Esse3 (where the acceptance/refusal can be done by the student). Concerning the registering, the students have to enroll directly on their personal area. Only one final grade will be reported in the student’s curriculum, representing the weighted arithmetic mean between the grades obtained in all exams of the integrated module.
Testi
Genetica umana e medica Giovanni Neri, Maurizio Genuardi (2017)
New Clinical Genetics A. Read and D. Donnai
Genetica medica Bruno Dallapiccola, Giuseppe Novelli (2022)
Contenuti
Basic genetic nomenclature; concepts of mutation, variant and polymorphism; pedigree drawing; inheritance of monogenic traits, Mendel laws; autosomal dominant, autosomal recessive, X-linked transmission; concepts of penetrance, expression, anticipation, fitness, mosaicism, phenocopy, imprinting, de novo mutations; dynamic mutations; genetic and allelic heterogeneity; oligogenic inheritance; mitochondrial DNA and inheritance; karyotype and chromosomal classification; numerical and structural chromosomal aberrations; multifactorial inheritance, quantitative traits, threshold effect; interpretations of genealogical trees
Lingua Insegnamento
INGLESE
Altre informazioni
Office hours: by appointment. Please email: enzamaria.valente@unipv.it