Presentazione:

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

 

I graduated in Industrial Biotechnology in 2006 at the University of Pavia. My course of study has always been based on genetics, molecular biology and cell biology and, in particular, my specialist thesis internship was mainly based on the study and analysis of human mitochondrial DNA.

 

Research activity

I began my working career as a fellow at the Cancer Institute of Milan in 2006, where I worked on cellular studies and analyzes of Toll Like receptors (TLRs), molecules that play a role in the regulation of the activities of particular cells of the immune system. Since 2007, I have been working at the C. Besta Neurological Institute in Milan. My research activity is based on genetic screening in the field of central nervous system disorders such as: spinocerebellar ataxias, spastic paraparesis, episodic ataxias, hemiplegic migraines and leukodystrophies.

 

My expertise is mainly focused on molecular biology technologies (RT-PCR, PCR, Souther Blot, MLPA, Sanger sequencing, microsatellites for expansion diseases). The analyzes are complemented by the design of primers for the amplification of genes and their optimization for multiplex PCR and Amplicon Deep Sequencing techniques. I also gained experience in NGS screening of multigenic panels in order to find pathogenetic mutations, annotation and classification of variants, prediction programs, analysis of results, validation of identified variants and segregation in families.

 

Topics of interest

• Genetics
• Neurodegenerative disorders
• Next Generation Sequencing (NGS)

 

 

Contacts

+39 02.2394.4580

email: elisa.sarto@istituto-besta.it