9799666 - THE CELL: MOLECULES AND PROCESSES 1
Modulo Medical genetics 1

• Understand the meaning of medical genetics in health and disease.

• Understand how and why genetic variation is crucial in health and

disease.

• Be proficient in analyzing Inheritance patterns, genetic penetrance,

and phenotype variability in mendelian disorders.

• Understand how zygosity may impact in health and disease.

with a blend of theory and practical exercises. In the event that teaching

is delivered in a blended or remote mode, necessary adjustments may be

introduced compared to what has been previously stated, in order to

adhere to the planned program as outlined in the Syllabus.

• Nuclear and Mitochondrial Genomes: from the cell to health and disease

• Genome variability in health and disease

• The wide range of genetic variants: 1) Copy Number Variant, 2)

Sequence Variant, 3) Polynucleotide Repeat Expansion, 4)

Imprinting defect

• The genotype

• The phenotype

• Phenotype-first and Genotype-first approaches

• Penetrance

• Expressivity

• Alleles and Genetic Loci

• Ploidy: Haploid, Diploid and Polyploid sets

• Zygosity: 1) Homozygosity, 2) Heterozygosity, 3) Hemizygosity, 4)

Wildtype Homozygosity, 5) Mutated Homozygosity, 6) Simple

Heterozygosity, 7) Compound Heterozygosity 

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.

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 written examination will consist of at least 30 questions with

multiple choice answers.

The oral examination will consist 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.

• How Nuclear and Mitochondrial Genomes lead to a different

genetics

• The wide range of genetic variants

• Genotype

• Phenotype

• Imprinting

• Penetrance

• Expressivity

• Alleles and Zygosity