9799669 - THE CELL: MOLECULES AND PROCESSES 2
Modulo Medical genetics 2

• Comprendano il significato del fenotipo sporadico o ereditario

• Identifchino e gestiscano tutte le modalità di ereditarietà genetica

• Comprendano la relazione tra una variante genetica ed il suo effetto sul fenotipo

• Analizzino e discutano i principi ed i concetti principali della genetica e della genomica del Cancro, inclusa la base genetica dei vari tipi di cancro

•Apprendano le regole, il significato ed il flusso di lavoro di un ambulatorio di genetica medica

• Applichino gli approcci della genetica allo sviluppo e al trattamento delle malattie, compreso l'uso delle terapie genetiche e degli interventi di precisione therapies and targeted interventions.

• Inherited and Sporadic Phenotype
• Mendelian Inheritance: 1) Autosomal Dominant, 2) Autosomal Recessive, 3) X-linked Recessive, 4) X-linked Dominant
• Mitochondrial Inheritance
• Dynamic Mutations
• Gonadal and Somatic Mosaicism
• The variants and their effect on the phenotype: 1) Synonymous variant, 2) Nonsynonymous variant, 3) Missense variant, 4) In-frame CNV, 5) Frameshift CNV, 6) Splicing variant
• The concept of multifactorial inheritance
• The role of epigenetics in modulating development, health, and disease
• Cancer Genetics and Genomics: from mutated genes to progressive genomic instability
• The genetic clinic and its multifaceted role: 1) Disease ascertainment and follow up, 2) Risk assessment for patients and family members, 3) Genetic counseling before conception, during preimplantation, during prenatal life, and after birth, 4) Presymptomatic genetic counseling, 5) The correct prevision of a genetic test
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• overview of treating genetic diseases and the genetic treatment of the diseases

• small molecule drugs and therapeutic proteins

• principles of gene and cell therapy

• gene therapy for inherited disorders

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 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.

• Autosomal Recessive Inheritance

• X-linked Inheritance

• The effect of variants on the phenotype

• The impact of environment and epigenetics in the phenotype

• Cancer genetics

• Genetic services

• Genetic treatment of the diseases