Ateneo - UPO

The aim of the course is to provide the student with the instruments to understand the molecular basis of the human genetic diseases and to prepare the students for the genetic counselling to the family

Neri G, Genuardi M:
Genetica Umana e Medica, ed. EDRA Masson, IV edizione (2024)
Dallapiccola B, Novelli G: Genetica Medica Essenziale, edizioni scientifiche Falco (2022)
Strachan T, Goodship J, Chinnery P:
Genetica e Genomica, ed. Zanichelli (2016)

Nussbaum et al.:
“Thompson and Thompson” Genetica in Medicina, ed. Idelson-Gnocchi (2018)
“Thompson and Thompson” Genetics and Genomics in Medicine, 9th Edition 2024

Porfirio B: Progress test: Genetica Umana (1000 esercizi a risposta multipla) , EdiSES (2007)

The aim of the course is to provide the student with the instruments to understand the molecular basis of the human genetic diseases and to prepare the students for the genetic counselling to the family

A basic knowledge of cell biology and flow of genetic information is expected.

Frontal lessons and exercises with the teacher in the classroom, and exercise with PC to solve clinical cases and genetic counseling

Ongoing learning check: guided written exercises concerning the topics of the course.
Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff “Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studentesse e Studenti”, consulting the University webpage: https://www.uniupo.it/en/services/services-
students-physical-or-learning-disabilities
Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects.

Written test.
The test includes about 13 open questions.
The overall evaluation will be achieved considering all the evaluation on the single question

-the human genome
-chromosome structure
-Cell reproduction: mitosis and meiosis.
Numerical and structural variations of the karyotype (polyploidy, aneuploidy, translocations, deletions and duplications).
-chromosome diseases and microdeletion -microduplication syndrome
The Mendelian laws and its applications.
Human Mendelian genetics: interpretation of genealogical t- rees, monogenic diseases and blood group genetics.
Extensions to Mendelian genetics: multiple allelism and genetic interactions (epistasis, penetrance and expressiveness).
Sex chromosomes and sex determination.
Recombination.
Population genetics: analysis of genetic variability, allelic and genotypic frequencies, Hardy-Weinberg law.
Evolution, natural and artificial selection, genetic drift, migration, mutation.
Study of quantitative and multifactorial characters and complex diseases.
Genetic tests and genetic counselling
Selected clinical cases , studied with the aid of genetic public online databases

Students are expected to learn the basics about the structure and organization of the human genetic material and the laws that regulates its transmission in the families.
In particular, students are expected to achieve the skill for the genetic counselling for human genetic disease identifying the appropriate genetic tests and the inheritance risks together with all the legal ethical and communicative issues.
Moreover, students are expected to be able to apply the knowledge on the different genetic topics to design experiments and to critically discuss the results.
Finally, students are expected to learn skills to communicate the genetic topics