Genetica e genomica umana con elementi di bioinformatica
A.Y. 2025/2026
Learning objectives
The course focuses on understanding the organization and regulation of the human genome, as well
as the molecular mechanisms that lead to the phenotypic expression of genetic information. It
includes an in-depth study of genome structure and disease-causing genetic variations. Students
will explore the fundamentals of heredity and the genetic mechanisms underlying both Mendelian
and non-Mendelian diseases. The course will provide a solid foundation in the theoretical and
conceptual aspects of human molecular genetics and genomics. Additionally, students will gain the
theoretical and methodological skills necessary to apply proper study methods in the field of
molecular genetics.
The course "Elements of Bioinformatics" aims to provide students with the skills to query and analyze
human genomics databases, browsers, and portals. It introduces the basics of using the R
environment for genomic data analysis and explains the principles behind bioinformatic approaches
applied in human genomics.
as the molecular mechanisms that lead to the phenotypic expression of genetic information. It
includes an in-depth study of genome structure and disease-causing genetic variations. Students
will explore the fundamentals of heredity and the genetic mechanisms underlying both Mendelian
and non-Mendelian diseases. The course will provide a solid foundation in the theoretical and
conceptual aspects of human molecular genetics and genomics. Additionally, students will gain the
theoretical and methodological skills necessary to apply proper study methods in the field of
molecular genetics.
The course "Elements of Bioinformatics" aims to provide students with the skills to query and analyze
human genomics databases, browsers, and portals. It introduces the basics of using the R
environment for genomic data analysis and explains the principles behind bioinformatic approaches
applied in human genomics.
Expected learning outcomes
Students will acquire the ability to:
- Describe the structure and features of the human genome.
- Describe next-generation techniques used in genomics.
- Discuss the genetic and phenotypic characteristics of genetic diseases and traits.
- Use theoretical and methodological skills to study genetic diseases.
-Utilize and interpret the content of genomic databases, portals, and browsers.
- Describe the organization and content of common bioinformatics formats.
- Employ the R environment and RStudio for basic genomic analyses.
- Explain the principles of bioinformatic programs for genome analysis.
- Describe the structure and features of the human genome.
- Describe next-generation techniques used in genomics.
- Discuss the genetic and phenotypic characteristics of genetic diseases and traits.
- Use theoretical and methodological skills to study genetic diseases.
-Utilize and interpret the content of genomic databases, portals, and browsers.
- Describe the organization and content of common bioinformatics formats.
- Employ the R environment and RStudio for basic genomic analyses.
- Explain the principles of bioinformatic programs for genome analysis.
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Lesson period
First semester
Course syllabus
1. Genome Structure
Objectives: Understand the genome and gene structure, non-coding regions, and repetitive sequences. Genetic markers. Genetic and physical mapping of the human genome, the Human Genome Project, and genome sequencing; principles of exome sequencing. Next Generation Sequencing techniques used in genomics.
2. Mapping Disease Genes and DNA Polymorphisms
Objectives: Understand the general principles of mapping disease genes through the identification of genetic markers and linkage analysis. Familiarize with the concepts of haplotype and linkage disequilibrium.
DNA polymorphisms: RFLPs, minisatellites (VNTRs), microsatellites (STRs), SNPs, and explain their use as genetic markers.
3. Chromosomal Disorders
Objectives: Describe human chromosomes and their structure, and the principles of karyotype analysis. Describe karyotype abnormalities: aneuploidies, structural abnormalities, and polyploidies. Describe the application of classical and molecular cytogenetic techniques (FISH and CGH Array). Describe the mechanisms underlying chromosomal mosaicism. Illustrate the features of genomic disorders and the mechanisms related to Copy Number Variations (CNVs).
4. Mendelian Diseases
Objectives: Understand Mendelian inheritance patterns of hereditary traits and interpret pedigrees. Describe the main exceptions to Mendelian inheritance (de novo mutations, incomplete penetrance, variable expressivity, and germline mosaicism). Explain the concepts of allelic and genetic heterogeneity. Provide examples of various categories of Mendelian diseases and describe the associated molecular pathogenic mechanisms. Describe the unique features of mitochondrial inheritance disorders with examples.
Describe diseases caused by dynamic mutations and the underlying molecular pathogenic mechanisms, with examples.
5. Epigenetics and Genomic Imprinting
Objectives: Recognize the characteristics of disease transmission due to genomic imprinting defects. Explain the principles of imprinting regulation, associated disorders, and uniparental disomy.
Illustrate the concepts related to epigenetic modifications and how environmental interactions affect the phenotype through these modifications.
Describe molecular tests used to detect epigenetic defects.
6. Genetic Determination of Sex and X Chromosome Inactivation
Objectives: Illustrate the molecular and genetic mechanisms underlying sex determination during embryogenesis. Describe conditions associated with disorders of sexual development and their underlying mechanisms.
Explain the biological significance of X chromosome inactivation and the molecular mechanisms that determine and regulate it. Describe exceptions to random X inactivation patterns and the phenotypic consequences in X-linked disorders.
7. Polygenic and Multifactorial Traits
Objectives: Clearly understand the difference between monofactorial and multifactorial traits and relate this to the existence of discontinuous and continuous variability. Explain the model underlying the genetic basis of multifactorial traits and discuss methods used to distinguish genetic (heritability) and environmental contributions in humans.
Be able to distinguish between multifactorial traits with continuous variability and traits with a threshold effect. Describe the threshold model for genetic susceptibility. Explain the mapping of complex traits through genome wide association studies.
8. Genes Involved in Genetic Predisposition to Cancer
Objectives: Know the main disease-related genes associated with genetic predisposition to cancer and involved in DNA repair mechanisms and cell cycle control. Illustrate examples of genetic predisposition (e.g., predisposition to colon cancer, breast cancer, retinoblastoma, and Li-Fraumeni syndrome). Understand the role of genetic counseling in families with cancer predisposition.
Objectives: Understand the genome and gene structure, non-coding regions, and repetitive sequences. Genetic markers. Genetic and physical mapping of the human genome, the Human Genome Project, and genome sequencing; principles of exome sequencing. Next Generation Sequencing techniques used in genomics.
2. Mapping Disease Genes and DNA Polymorphisms
Objectives: Understand the general principles of mapping disease genes through the identification of genetic markers and linkage analysis. Familiarize with the concepts of haplotype and linkage disequilibrium.
DNA polymorphisms: RFLPs, minisatellites (VNTRs), microsatellites (STRs), SNPs, and explain their use as genetic markers.
3. Chromosomal Disorders
Objectives: Describe human chromosomes and their structure, and the principles of karyotype analysis. Describe karyotype abnormalities: aneuploidies, structural abnormalities, and polyploidies. Describe the application of classical and molecular cytogenetic techniques (FISH and CGH Array). Describe the mechanisms underlying chromosomal mosaicism. Illustrate the features of genomic disorders and the mechanisms related to Copy Number Variations (CNVs).
4. Mendelian Diseases
Objectives: Understand Mendelian inheritance patterns of hereditary traits and interpret pedigrees. Describe the main exceptions to Mendelian inheritance (de novo mutations, incomplete penetrance, variable expressivity, and germline mosaicism). Explain the concepts of allelic and genetic heterogeneity. Provide examples of various categories of Mendelian diseases and describe the associated molecular pathogenic mechanisms. Describe the unique features of mitochondrial inheritance disorders with examples.
Describe diseases caused by dynamic mutations and the underlying molecular pathogenic mechanisms, with examples.
5. Epigenetics and Genomic Imprinting
Objectives: Recognize the characteristics of disease transmission due to genomic imprinting defects. Explain the principles of imprinting regulation, associated disorders, and uniparental disomy.
Illustrate the concepts related to epigenetic modifications and how environmental interactions affect the phenotype through these modifications.
Describe molecular tests used to detect epigenetic defects.
6. Genetic Determination of Sex and X Chromosome Inactivation
Objectives: Illustrate the molecular and genetic mechanisms underlying sex determination during embryogenesis. Describe conditions associated with disorders of sexual development and their underlying mechanisms.
Explain the biological significance of X chromosome inactivation and the molecular mechanisms that determine and regulate it. Describe exceptions to random X inactivation patterns and the phenotypic consequences in X-linked disorders.
7. Polygenic and Multifactorial Traits
Objectives: Clearly understand the difference between monofactorial and multifactorial traits and relate this to the existence of discontinuous and continuous variability. Explain the model underlying the genetic basis of multifactorial traits and discuss methods used to distinguish genetic (heritability) and environmental contributions in humans.
Be able to distinguish between multifactorial traits with continuous variability and traits with a threshold effect. Describe the threshold model for genetic susceptibility. Explain the mapping of complex traits through genome wide association studies.
8. Genes Involved in Genetic Predisposition to Cancer
Objectives: Know the main disease-related genes associated with genetic predisposition to cancer and involved in DNA repair mechanisms and cell cycle control. Illustrate examples of genetic predisposition (e.g., predisposition to colon cancer, breast cancer, retinoblastoma, and Li-Fraumeni syndrome). Understand the role of genetic counseling in families with cancer predisposition.
Prerequisites for admission
Students are expected to have a very strong background in genetics and molecular biology
Teaching methods
Interactive face-to-face lectures will be supported by projected materials. Students will be encouraged to actively participate in the lessons to improve their critical thinking skills and their ability to communicate scientific concepts. They will also be encouraged to read and discuss scientific literature.
Attendance is strongly recommended.
Attendance is strongly recommended.
Teaching Resources
Genetics and Genomics - Strachan, Zanichelli
Human and Medical Genetics, 4th edition - Giovanni Neri, Maurizio Genuardi, Edra Publisher
Genetics in Medicine - Nussbaum, McInnes, Willard, EdiSes (Thomson and Thompson)
Human Molecular Genetics - T. Strachan, A. Read, Zanichelli Publisher
Copies of the lecture slides and additional study materials (articles and reviews) will be available on the MyAriel website.
Human and Medical Genetics, 4th edition - Giovanni Neri, Maurizio Genuardi, Edra Publisher
Genetics in Medicine - Nussbaum, McInnes, Willard, EdiSes (Thomson and Thompson)
Human Molecular Genetics - T. Strachan, A. Read, Zanichelli Publisher
Copies of the lecture slides and additional study materials (articles and reviews) will be available on the MyAriel website.
Assessment methods and Criteria
The exam consists of a written test with open questions and multiple choice questions, to assess the level of knowledge and skills acquired in both parts of the course. We will evaluate the ability to organize acquired knowledge in a text and the usage of scientific language.
BIO/18 - GENETICS - University credits: 6
Practicals: 32 hours
Lessons: 32 hours
Lessons: 32 hours
Professors:
Caretti Giuseppina, Giannuzzi Giuliana
Professor(s)