9797238 - THE CELL: MOLECULES AND PROCESSES
Modulo Medical genetics I

• Demonstrate a comprehensive understanding of the fundamentals of DNA, chromosomes, and cells.

• Possess a deep knowledge of gene structure, gene expression, and human genome organization.

• Exhibit a solid grasp of the principles underlying core genetic Technologies.

• Understand the principles of genetic variation.

• Be proficient in analyzing Inheritance patterns, phenotype variability, and allele frequencies in single-gene disorders.

• Comprehend the principles of gene regulation and epigenetics

o structure and function of chromosomes

o DNA and chromosomes in cell division and the cell cycle

• Fundamentals of human genome organization

o RNA genes and noncoding RNA

o Details and meaning of the human genome

o Electronic resources for the interrogation of the human genome sequence and gene products

o The organization and evolution of the human genome

• Principles of genetic variation

o DNA sequence variation origins and DNA repair

o population genomics and the scale of human genetic variation 

o functional genetic variation and protein polymorphism 

o extraordinary genetic variation in the immune system

• Single-gene disorders: inheritance patterns, phenotype variability, and allele frequencies 

o terminology, electronic resources, and pedigrees

o mendelian and mitochondrial DNA inheritance patterns

o uncertainty, heterogeneity, and variable expression of mendelian phenotypes

o allele frequencies in populations 

• Principles of gene regulation and epigenetics 

o genetic regulation of gene expression 

o chromatin modification and epigenetic factors in gene regulation

o abnormal epigenetic regulation in mendelian and imprinting disorders

• Strachan and Lucassen. Genetis and Genomics in Medicine. Second Edition, 2023, CRC presso, Taylor and Francis Group.

• Pyeritz, Korf, and Grody. Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, 7th Edition, 2019, Elsevier.

• Jorde, Carey, and Bamshad. Medical Genetics, 6th Edition, 2020, Elsevier.

Any additional educational material (slides, videos, handouts, etc.) will be distributed or indicated during the lessons.

The assessment of acquired knowledge is conducted by an oral examination. The grade is expressed on a scale of thirty, up to a maximum of 30/30 cum laude (with honors). The final grade is determined by the weighted average of the scores obtained in the course subjects. 

The oral examination consists of an interview during which questions will cover at least three different topics from the course curriculum. The assessments aim to evaluate: i) the level of knowledge in the disciplines; ii) the ability to apply this knowledge to solve specific problems related to the disciplines (autonomous problem-solving); iii) clarity of expression; iv) proficiency in medical-scientific language. The assessment of learning can also be conducted remotely if the conditions necessitate it.

For the assignment of the final grade, the following parameters will be considered:

• Score 29-30 with honors: The student demonstrates an in-depth knowledge of the topics, promptly and correctly integrates and critically analyzes presented situations, independently solving even highly complex problems. They possess excellent communication skills and command medical-scientific language proficiently.

• Score 26-28: The student has a good understanding of the topics, is able to integrate and critically and logically analyze presented situations, can fairly independently solve complex problems, and presents topics clearly using appropriate medical-scientific language.

• Score 22-25: The student has a fair understanding of the topics, although it may be limited to the main areas. They can integrate and critically analyze presented situations, although not always in a linear fashion, and present topics fairly clearly with moderate language proficiency.

• Score 18-21: The student has minimal knowledge of the topics, possesses modest ability to integrate and critically analyze presented situations, and presents topics sufficiently clearly, although their language proficiency may be underdeveloped.

• Exam not passed: The student lacks the minimum required knowledge of the core content of the course. Their ability to use specific language is minimal or nonexistent, and they are unable to independently apply acquired knowledge.

• The flow of genetic information within the cell
• Autosomal Dominant Inheritance
• Autosomal Recessive Inheritance
• X-Linked Inheritance
• Mitochondrial Inheritance
• Dynamic Mutations
• Imprinting
• Penetrance
• Expressivity
• Mutations and Genetic Variants
• Alleles and Zygosity