Learning objectives

The course addresses an extremely relevant issue in the "post-sequencing" era, namely the need to maximize the information that can be obtained from tumor sequencing in order to improve patient care.

Prerequisites and basic notions

No specific prerequisites

Program

The founding principle of precision medicine is to use patients' genotypic profiles to guide therapeutic choices. The reality is that most of the identified genetic alterations are not characterized from a functional point of view, thus limiting the current benefits of precision medicine for patients. Functional precision genomics aims to identify genotype-phenotype correlations on a large scale and is therefore based on the integration of tumor genetics with variant classification. During this course, examples from recent literature and direct laboratory experiences of the course instructor will be used to provide students with an overview of the methodological and technological approaches to conduct functional perturbation analyses (e.g., genome-wide Crispr/Cas9 screens) and define the impact of variants on: (i) protein activity; (ii) tumorigenic fitness; (iii) "dependency" (essentiality non-essentiality). In addition to presenting the main experimental tools to measure the effect of genetic manipulations (e.g., RNA-sequencing, molecular barcoding, small molecules screening), the main advantages and disadvantages of each approach and orthogonal strategies for the validation of the results will also be discussed.

Didactic methods

Frontal lesson with slide support. Bibliographic references will be provided to students

Learning assessment procedures

No exams scheduled

Assessment

No evaluation expected

Criteria for the composition of the final grade

No final grade expected

Scheduled Lessons