Knowledge and understanding: At the end of the course the student will have to demonstrate their knowledge regarding the characteristics of chromosomal, Mendelian, multifactorial traits/pathologies and know how to contextualize them in clinical practice. The student will also have to know the main methodologies for genetic data analysis and their application. Applying knowledge and understanding: At the end of the course the student will be able to apply the knowledge acquired for the evaluation and interpretation of clinical cases, formulate hypotheses on the hereditary transmission of characters and pathologies, draw and interpret genealogical trees. Making judgements: At the end of the course the student will have to acquire critical skills and autonomy of judgment, demonstrating the ability to connect the different aspects of the discipline in a concise and clear way. The student will have to demonstrate to be able to formulate hypotheses for elaborating and deepening the acquired knowledge, taking advantage of the relevant scientific literature. Communication skills: At the end of the course the student will have to demonstrate to be able to clearly explain the acquired concepts using correct scientific terminology. The students will have to demonstrate to be able to solve the exercises proposed during the exam and participate in a critical discussion on the topics of the course. Learning skills: At the end of the course the student will have to demonstrate to be able to independently explore the topics covered by the course, through the critical consultation of scientific articles, textbooks and other documentation provided by the teacher and apply the notions learned in the subsequent learning courses.

Knowledge of the general aspects of biology.

This course contributes to the realization of the learning objective of the course in Assistenza Sanitaria by providing the student with basic knowledge of Medical Genetics. The main aim of the module is to provide students with knowledge regarding i) the fundamental concepts of human and medical genetics; ii) the available strategies to study the molecular mechanisms underlying genetic diseases. The following topics will be covered: 1. Introduction to Genetics and cell cycle. 2. Chromosomes and chromosomal aberrations. 3. Mendel’s laws and transmission of Mendelian diseases. 4. Variants and polymorphisms. 5. Multifactorial diseases.

“Thompson & Thompson Genetics and Genomics in Medicine”. Robert Nussbaum et al. Elsevier. 2023. “Genetics and Genomics in Medicine”. Tom Strachan, Anneke Lucassen. Taylor & Francis Ltd. 2022. “Human molecular genetics”. Tom Strachan, Andrew Read. Taylor & Francis Inc. 2019.

The following topics will be covered: 1. Introduction to Genetics and cell cycle: human genome structure (nuclear and mitochondrial DNA organization); mitosis and meiosis. 2. Chromosomes and chromosomal aberrations: classic and molecular karyotype; chromosomal aberrations and meiotic non-disjunction; examples of pathologies. 3. Mendel’s laws and transmission of Mendelian disorders: autosomal dominant, recessive, X-linked dominant and recessive, Y-linked inheritance; penetrance and expressivity; mosaicism; examples of diseases. 4. Variants and polymorphisms: variants classification (synonymous, missense, non-sense, frameshift, splicing variants, insertions, deletions); polymorphisms. 5. Multifactorial diseases: quantitative and qualitative traits; association studies.

Lectures: Powerpoint slides with images.

The teacher is available for clarifications on the covered topics, via e-mail or face-to-face interviews.

The ongoing exam of the Medical Genetics module is based on the module program, and the grade is expressed on a 30-point scale. The evaluation of the students will be performed through an oral examination that will include questions regarding the course program and exercises; students will have to demonstrate to be able of analyzing and revising the concepts acquired during the course.
The following grading system will be applied:
- Excellent (30 - 30 with honours): excellent knowledge of the subject and technical language proficiency, autonomous critical and analytical skills, and outstanding ability to apply acquired knowledge to concrete scenarios.
- Very good (27-29): above the average knowledge of the subject and technical language, adequate autonomous critical and analytical skills, and ability to apply acquired knowledge to concrete scenarios.
- Good (24-26): good knowledge of the subject and technical language, autonomous critical and analytical skills, and ability to apply acquired knowledge in most areas.
- Satisfactory (21-23): reasonable knowledge of the subject and technical language, autonomous critical and analytical skills, and limited ability to apply acquired knowledge to concrete scenarios.
- Sufficient (18-20): sufficient or fair knowledge of the subject, very limited mastery of the technical language.
- Insufficient (<18): insufficient knowledge of the subject and absence of judgments and independent thinking.

This course explores topics closely related to one or more goals of the United Nations 2030 Agenda for Sustainable Development (SDGs). 03. Good health and well-being