A.A. di erogazione 2020/2021
Insegnamento obbligatorio

Laurea Magistrale in BIOMEDICAL SCIENCES
 (A.A. 2020/2021)
L'insegnamento è composto da diversi moduli, consultare il dettaglio nella sezione Moduli.
Anno di corso: 
Secondo Semestre
Ore di attivita' frontale: 

MODULE 2 – Human Genetics and Genomics (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 module 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 class lessons and the organizing issues related to the course, either by phone or e-mail.
Telephone: ++39-0332-421512
Email address:

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A.A. 2019/2020

Anno di corso: 1
Curriculum: Basic and applied biomedical sciences