ID:
510326
Durata (ore):
48
CFU:
6
SSD:
GENETICA
Anno:
2024
Dati Generali
Periodo di attività
Secondo Semestre (03/03/2025 - 13/06/2025)
Syllabus
Obiettivi Formativi
This course will provide a solid background in Genetics and Cell Biology that is essential for the following advanced courses of this master program: “Pharmacogenomics, cancer genomics and epigenomics” “(1st semester 2nd year), Molecular Genetics (elective), Laboratory of Advanced Bioinformatics for omics sciences “(1st semester 2nd year).
At the end of the course, students will acquire fundamental knowledge of mechanisms of cell division, genetics and epigenetics, mendelian inheritance in humans and genetic variability. Moreover, they will acquire basic notions of some bioinformatic tools and databases used in human genetics.
At the end of the course, students will acquire fundamental knowledge of mechanisms of cell division, genetics and epigenetics, mendelian inheritance in humans and genetic variability. Moreover, they will acquire basic notions of some bioinformatic tools and databases used in human genetics.
Prerequisiti
A basic knowledge of molecular biology and biochemistry is required, if needed can be acquired in the following courses: “Basic Molecular Biology “(1st semester 1st year) and “Basic Biochemistry” (1st semester 1st year).
Metodi didattici
The course is organized in frontal lessons supported by PowerPoint presentations. These presentations will be made available on the Kiro moodle platform for students enrolled in the course. The most appropriate inclusive educational methods will be implemented to accommodate the needs of specific categories of students (such as working students, students with disabilities, and those engaged in caring for family members) as defined by the University of Pavia.
Verifica Apprendimento
The exam consists of an individual oral test, aimed at assessing the skills acquired in relation to the course content. Additionally, the presentation of a scientific research article to deepen understanding of a topic related to the course content (e.g., a genetic disease) is required. The topic of the presentation is chosen by the student but must be previously discussed with Dr. Tricarico to ensure that both the topic and the article are fully adequate. The presentation of the scientific article (about 30 minutes) will be evaluated as part of the exam. In the evaluation, consideration will be given to the ability to communicate and the use of appropriate scientific language.
Testi
Michael R. Cummings: Human Heredity, Edises
Snustad DP, Simmons MJ: Principles of Genetics, Edises
Snustad DP, Simmons MJ: Principles of Genetics, Edises
Contenuti
Part I:
- General overview of the cell cycle.
- Meiosis and mitosis.
- Mendelian inheritance: Mendel's laws and simple Mendelian ratios.
- Sex-linked inheritance.
- Mendelian hereditary genetic diseases.
- Pedigree analysis.
- Exceptions to Mendelian inheritance: incomplete penetrance, variable expression, pleiotropy, epistasis, genetic anticipation (e.g. Huntington's disease).
- Atypical mechanisms of inheritance: mitochondrial inheritance, inheritance of complex traits (polygenic and multifactorial traits).
- Population genetics: Hardy-Weinberg principle, allelic and genotypic frequencies.
Part II:
- Numerical and structural chromosomal abnormalities.
- Structure of the human genome (gene families, unique and repetitive sequence DNA, centromeres and telomeres.
- Human Genome Project.
- Genetic and genomic variability and their applications: genetic mutations; types of mutations, classifications, nomenclature of mutations, germline vs. somatic mutations, concepts of loss of function, gain of function, dominant negative mutations, types of polymorphisms and their applications, haplotypes, minor allele frequency (MAF).
- Principles of cancer genetics.
- Principles of eukaryotic gene regulation and epigenetic mechanisms: histone modifications and DNA methylation.
- Epigenetics and human diseases.
Part III:
- Overview of Genetic Databases: OMIM, Human Protein Atlas, dbSNP, cBioPortal, gnomAD, and others.
- General overview of the cell cycle.
- Meiosis and mitosis.
- Mendelian inheritance: Mendel's laws and simple Mendelian ratios.
- Sex-linked inheritance.
- Mendelian hereditary genetic diseases.
- Pedigree analysis.
- Exceptions to Mendelian inheritance: incomplete penetrance, variable expression, pleiotropy, epistasis, genetic anticipation (e.g. Huntington's disease).
- Atypical mechanisms of inheritance: mitochondrial inheritance, inheritance of complex traits (polygenic and multifactorial traits).
- Population genetics: Hardy-Weinberg principle, allelic and genotypic frequencies.
Part II:
- Numerical and structural chromosomal abnormalities.
- Structure of the human genome (gene families, unique and repetitive sequence DNA, centromeres and telomeres.
- Human Genome Project.
- Genetic and genomic variability and their applications: genetic mutations; types of mutations, classifications, nomenclature of mutations, germline vs. somatic mutations, concepts of loss of function, gain of function, dominant negative mutations, types of polymorphisms and their applications, haplotypes, minor allele frequency (MAF).
- Principles of cancer genetics.
- Principles of eukaryotic gene regulation and epigenetic mechanisms: histone modifications and DNA methylation.
- Epigenetics and human diseases.
Part III:
- Overview of Genetic Databases: OMIM, Human Protein Atlas, dbSNP, cBioPortal, gnomAD, and others.
Lingua Insegnamento
INGLESE
Altre informazioni
The course features a dedicated website on the University of Pavia's e-learning portal, Kiro, which students can access by using their login credentials.
Corsi
Corsi
MOLECULAR BIOLOGY AND GENETICS
Laurea Magistrale
2 anni
No Results Found
Persone
Persone
No Results Found