Module I: Human Genetics and Genomics

A.A. di erogazione 2020/2021
Insegnamento obbligatorio

Laurea Magistrale in BIOMEDICAL SCIENCES
 (A.A. 2020/2021)
L'insegnamento è condiviso, tecnicamente "mutuato" con altri corsi di laurea, consultare il dettaglio nella sezione Mutuazioni
Anno di corso: 
Tipologia di insegnamento: 
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Secondo Semestre
Ore di attivita' frontale: 
Dettaglio ore: 
Lezione (48 ore)

The purpose of the Course of Human Genetics and Genomics is to provide the students with a detailed knowledge in the most recent topics in Human Genetics and Genomics. Modern approaches within these fields will be described and discussed in this course, with a special attention on both the relevant potentials and pitfalls in these areas. Moreover, the module will provide a comprehensive picture of the recent field of genomic science, with a particular focus on the human genome. The issues of the course were selected focusing on both conceptual and methodological genetic approaches and emphasis will be given toward the benefits and limitations of such approaches. By providing a detailed knowledge in human genetics and genomics, coupled to both the abilities needed for understanding the genetic mechanisms underlying biological processes in normal and pathological conditions in human beings and the most recent advances in human genome sciences, this course provides a fundamental knowledge in the context of biomedical sciences, thus fulfilling a key prerequisite for the Master Degree in which it is held.
The expected learning outcomes for this course will be the following:
-A detailed knowledge of the principles of genomic sciences and both the experimental approaches and main achievements in the field of genomics, together with the most relevant topics concerning modern approaches in human genetics.
-The ability to carry out bibliography searches and to synthesize the retrieved informations in oral and/or visual representation
- The ability to achieve an informed judgment, adequate expertise and communication skills in relation to both the experimental approaches and the main scientific achievements in human genetics and genome sciences.
- The ability to develop a critic awareness and ability to analyze and discuss issues related to the course contents and the comprehension skills required to develop and maintain issues related to the acquired knowledge, by means of critical reasoning and problem-solving attitudes

Basic molecular genetics background as well as biochemical, physiological and cellular/molecular biology basic notions are required.

CLASS LESSONS (6 CFUs, 48 hours)

• From Genetics to Genomics: introduction.
• Introduction to human pedigrees and inheritance patterns.
• The Human Genome project: rationale, aims and planning.
• Definition of human disease genes. Positional cloning approaches.
• Introduction to human genetic maps and human polymorphic genetic markers.
• Theoretical basis of linkage analysis in humans (LOD scores).
• Autozygosity mapping approaches for autosomal recessive diseases.
• Physical maps of the human genome by somatic cell and radiation hybrids.
• Physical maps based on FISH assays.
• Human genomic DNA libraries and assembly physical maps based on recombinant clone contigs by means of either clone fingerprinting or STS-content mapping.
• Transcriptiononal maps of the human genome. The EST project.
• Human genome sequencing: introduction to the “clone-by-clone” and “whole genome shotgun” approaches.
• The public and private human genome projects.
• Validation of the human genome sequence assembly.
• The post-genomic era: genome annotation. The informational content of the human genome.
• Genomic paradoxes: the relashionship between DNA content, gene number and biological complexity.
• Functional genomics in humans - 1: The GeneOntology and EnCODE projects.
• Functional genomics in humans - 2: Forward and reverse genomics approaches.
• Genomic approaches for the genetic dissection of complex diseases: Linkage disequilibrium mapping.
• The advent of SNP markers and the HapMap project.
• Genome wide association studies in humans and the “missing heritability” issue.
• Approaches for next generation sequencing.
• The 1000 genome project.
• Mapping human disease genes by exome sequencing.
• Introduction and applications of personal genomics and precision medicine.

The course will be held by class lessons (6 CFUs) with the aid of Power Point slide presentation sessions, coupled to projection of didactic movies when required. Scientific articles focused on high relevance topics will be provided to the students as well and will be possibly discussed in the classroom.

The learning outcomes will be assessed through an oral interview lasting approximately 25-30 minutes, during which several topics selected from the syllabus will be discussed .The final evaluation will include an overall assessment regarding: 1) the level of knowledge about different topics related to the course content and the precision and overall quality of the answers (50%); 2) the student’s ability to properly motivate his/her statements and to sustain an adequate discussion (30%) and 3) the communication skills (20%). At least one question concerning the laboratory module will be asked. The final mark will be calculated on the above mentioned criteria and the exam will be considered passed equal or over the 18/30 mark.

The teaching material is regularly updated and will be provided to all students in the e-learning online platform as Powerpoint slides file, short notes, animation files and articles from scientific literature on selected issues.

Recommended textbook:

• T Strachan & A. Read – “Human Molecular Genetics” (CRC Press, Ed. 2019)
• T Strachan, J Goodship & P Chinnery – “Genetics and Genomics in Medicine” (Garland Science Publ.)

The teacher is available under appointment for conversations with the students focussed on both the topics discussed in the course and organizing issues related to the course, either by phone or e-mail.
Telephone: ++39-0332-421512
Email address: