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Genetica di precisione - Giorgio lab

Prof. Elisa Giorgio


Lab members

Mariia Zadorozhna: post-doc

Erica Bascetta: research fellow

Ludovica Fenaroli: undergraduate student

Cecilia Taccagni: undergraduate student

Anna Basile: undergraduate student


The lab is focused on the identification of rare genetic diseases (RGDs) associated with non-canonical mutations and on the development of therapeutic strategies for RGDs by RNA therapeutics and drug-repositioning approaches.

PROJECT 1. Illuminating the non-coding genome to improve diagnosis in RGDs. Next Generation Sequencing has enormously increased the capability to diagnose RGDs, however the majority of patients (about 60%) often lacks a definite diagnosis. The reasons for this gap are undoubtedly many, but a large portion of the missing heritability likely resides in non-coding and regulatory variants. The lab is aimed at identifying and characterizing RGDs associated with "position effects", namely mutations affecting regulatory elements such as enhancer and insulator and/or the 3D genome structure.

PROJECT 2. Innovative therapeutic strategies for RGDs. The lab is focused on innovative precision-medicine approaches to overcome the genetic defect underlying RGDs, as the mutated gene itself provides a potential druggable genomic target for therapeutic design. We are developing therapeutic options for i) a rare form of leukoencephalopathy, the adult-onset autosomal dominant leukodystrophy (ADLD) by RNA therapeutics (allele-specific RNAi) and drug repositioning approaches, ii) the Early Infantile Epileptic Encephalopathy type 9 by RNA therapeutics (silencing) and epigenetic editing (deadCas9-mediated epigenetic activation)

PROJECT 3. Identification of new disease-associated genes/new phenotype associated with known genes by genome and exome sequencing in subjects with neurodevelopment diseases, leukodystrophy, ataxias, complex syndromes, and fetal malformations. To this aim, the lab develops ad hoc functional assays aimed at corroborating the pathogenicity of the identified variants and at generating innovative and disease-relevant cellular models.