Presentazione:

PHARMACEUTICAL CHEMIST AND TECHNICIAN
SC Neurologia 4 - Neuroimmunologia e Malattie neuromuscolari
(italian version)

 

In 2008, I started working as a fellow at the Muscle Cell Laboratory and from the beginning my projects have focused on neuromuscular diseases. 

 

Research activity

Initially I conducted some studies aimed at the characterization of fibrosis in in vitro and in vivo models of muscular dystrophy, to better understand the pathogenetic mechanisms of fibrosis and identify possible therapeutic targets.
Subsequently, along with basic research projects, I have started to deal with genetic analysis, mainly through the use of Next Generation Sequencing (NGS). Part of my work consists in the search for the genetic cause in patients affected by neuromuscular diseases who refer to the Foundation.
Having a better definition of genotype-phenotype relationships helps clinicians to direct the diagnostic process and to correctly stratify patients.
These genetic studies are often accompanied by in vitro functional validations on primary cells in order to highlight the pathogenetic mechanisms.
Access to these samples is facilitated by the presence of a biobank, the Neuromuscular Disease Biobank, established in the early 2000s in our laboratory, which is part of the Telethon Genetic Biobank, RD-connect and BBMRI networks. Since 2008, I have been involved in the management of the biobank's activities and more recently I have become responsible for it.

 

Topics of interest

• Neuromuscular Disorders
• Neuromuscular Disorders Genetics
• Biobanks Development and Validation

 

 

Contacts

02.2394.4653 - 4509

email: sara.gibertini@istituto-besta.it