Presentazione:

BIOLOGIST
SC Servizio di Medicina di Laboratorio - Genetica Medica e Neurogenetica
(italian version)

 

I have a degree in Biology Applied to Biomedical Research. Specialist in Medical Genetics. I have been working as a researcher at the Fondazione IRCCS Istituto Neurologico C. Besta since 2008.

 

Research activity

In recent years I have gained experience in the molecular biology of neurological diseases on genetic basis, acquiring a complete autonomy in the use of laboratory techniques and in the acquisition and interpretation of the biological results. In particular, I am an expert in DNA sequencing by new generation techniques, sequence variant analysis, DNA and RNA quantitative analysis, protein analysis, cell cultures. I turned my activity and my interest mainly towards motor neuron diseases (in particular Amyotrophic Lateral Sclerosis) by participating in scientific publications and research projects. I collaborate with international research groups dedicating their study on molecular genetics in ALS (SLAGEN consortium). I have developed analysis of WES for families that tested negative for target sequencing in order to identified new disease genes. I am deepening my studies on the role of the intermediate alleles of in repeated expansions genes as possible predisposing factors for ALS and on the sequencing with third generation technology (Nanopore Oxford Technologies) of expanded alleles in the C9orf72 gene. I deal with the analysis of new cases related to the Institute with clinical diagnosis of mental retardation for the FMR1 gene in order to identify patients suffering from Fragile X disease and the analysis of genes involved in metabolic diseases with specific enzymatic deficits.

 

Topics of interest

• Motor neuron Diseases
• Genetics
• Next Generation Sequencing (NGS).

 

 

Contacts

+39 02.2394.4575

email: viviana.pensato@istituto-besta.it