Molecular genetics and Microbial Biotechnology

Module GENETICA MOLECOLARE

By the end of the Molecular Genetics module, students will have achieved the following learning outcomes, structured according to the Dublin Descriptors.

1. Knowledge and understanding
Students will:

• know and understand the main factors underlying the complexity of genotype–phenotype relationships, with particular reference to genetic and phenotypic heterogeneity, penetrance, expressivity, and mosaicism; 
• understand the genetic and molecular basis of phenomena such as anticipation, genomic imprinting, and mitochondrial inheritance; 
• understand genetic polymorphisms, the functional consequences of genetic variants and the methods used for their identification
• understand the role of epigenetic mechanisms in the regulation of gene expression and phenotype determination. 

2. Applying knowledge and understanding
Students will be able to:

• Know and understand the genetic complexity of the major human genetic diseases;
• apply the acquired knowledge to the interpretation of inheritance patterns and phenotypic variability of genetic traits, particularly those associated with human diseases; 
• relate genetic variants to their molecular consequences and phenotypic manifestations; 
• Understand the relationship between epigenetic mechanisms, aging, and disease.
• use the scientific literature and major bioinformatic resources to retrieve and integrate information on genes, genetic variants, and genetic diseases. 

3. Making judgements
Students will be able to:

• critically evaluate and integrate genetic and molecular information from different sources; 
• recognize the main factors that may complicate or introduce uncertainty into the interpretation of genotype–phenotype relationships, with particular reference to genetic diseases. 

4. Communication skills
Students will be able to:

• describe and discuss genetic and molecular phenomena using appropriate scientific terminology; 
• clearly and effectively present information obtained from the scientific literature and genomic resources. 

5. Learning skills
Students will be able to:

• independently explore topics in molecular genetics through the critical use of scientific literature and major bioinformatic resources; 
• independently update their knowledge in response to advances in molecular genetics.

Following an introduction to the main resources for accessing scientific literature and genetic, genomic, and genetic disease-related information, students will independently explore a genetic disease or a specific genetic phenomenon by searching and analysing the scientific literature and available bioinformatic resources. This part of the course includes flipped learning activities. The results of this activity will be presented and discussed in class with the lecturer and fellow students. The activity is aimed at developing skills in searching, selecting, and critically interpreting scientific information, as well as the ability to present and discuss scientific topics using appropriate disciplinary terminology.

In addition, the course includes 1 CFU of laboratory activity, during which various methods for the analysis of genetic polymorphisms will be presented and applied. 

Information for students with disabilities and/or specific learning disorders (SLD): In accordance with current legislation and to ensure equal opportunities, students requiring accommodations may request an individual meeting with the instructor to discuss appropriate compensatory and/or dispensatory measures, consistent with the learning objectives of the course and their specific needs. Students may also contact the departmental representative of CInAP (Centre for Active and Participatory Inclusion – Services for Students with Disabilities and Specific Learning Disorders) for further assistance.

To effectively follow the Molecular Genetics module, students are expected to have basic knowledge and understanding of Mendelian and molecular genetics, DNA structure and function, gene expression, and genome organization and function.

Attendance is regulated according to the provisions of the Degree Programme Regulations.

-Complexity in the analysis of autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive Mendelian traits. Factors contributing to uncertainty in determining the inheritance patterns of monogenic traits. Examples of human genetic diseases exhibiting these factors of complexity.

-Genotype–phenotype relationships: locus heterogeneity, allelic heterogeneity, and phenotypic heterogeneity; incomplete penetrance and variable expressivity; pleiotropy and mosaicism. Examples of monogenic diseases and analysis of the main factors underlying phenotypic variability. Examples of human genetic diseases exhibiting these factors of complexity.

-Genetic variants and their molecular and functional consequences. Loss-of-function and gain-of-function mutations, haploinsufficiency, and dominant-negative effects. Variants affecting gene expression and splicing. Relationships between variant type, molecular mechanism, and phenotype.

-Genetic anticipation and dynamic mutations. Molecular basis and phenotypic consequences of repeat expansions.

Mitochondrial inheritance: characteristics of maternal inheritance, heteroplasmy, replicative segregation, threshold effect, and phenotypic variability. Examples of mitochondrial diseases.

-Epigenetic mechanisms and regulation of gene expression: DNA methylation, histone modifications, and functional organization of chromatin. Genomic imprinting and X-chromosome inactivation. Epigenetic alterations, phenotypic variability, and disease. Role of epigenetic mechanisms in biological processes associated with ageing.

-Main resources for searching and interpreting genetic and biomedical information. Use of the scientific literature and genetic and genomic databases for the analysis of genes, genetic variants, and genetic diseases.

The final examination consists of a written test comprising two open-ended questions, each awarded a maximum of 10 points.

An in-course assessment, worth a maximum of 10 points, is also included and consists of the presentation and discussion of a topic or genetic disease agreed upon with the lecturer. This assessment is designed to evaluate the student's ability to search for and select information from the scientific literature and bioinformatic resources, critically analyse it, and present it using appropriate scientific terminology.

The final grade, expressed on a 30-point scale, is calculated as the sum of the scores obtained in the written examination (maximum 20 points) and the in-course assessment (maximum 10 points).

In accordance with current legislation and to ensure equal opportunities, students requiring accommodations may request an individual meeting with the instructor to discuss appropriate compensatory and/or dispensatory measures, consistent with the learning objectives of the course and their specific needs. Students may also contact the departmental representative of CInAP (Centre for Active and Participatory Inclusion – Services for Students with Disabilities and Specific Learning Disorders) for further assistance.

• The main factors underlying the complexity of genotype–phenotype relationships in Mendelian traits. 
• Genetic heterogeneity, incomplete penetrance, and variable expressivity: characteristics and effects on phenotype. 
• Loss-of-function and gain-of-function mechanisms and their phenotypic consequences. 
• Heteroplasmy and the threshold effect in mitochondrial inheritance. 
• The main epigenetic mechanisms and their effects on the regulation of gene expression.