Presentazione:

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

 

I graduated in Cellular and Molecular Biology at the University of Catania (2009); I obtained a post-graduate Master Course in Preclinical and Clinical Drug Research and Development at the University of Milan-Bicocca (2019), currently I am attending the School of Specialization in Medical Genetics at the University of Milan.

 

Reasearch activity

At the beginning of my career I worked on molecular diagnostics and genetic research of new molecular strategies on the diagnosis of movement disorders and energy metabolism diseases, then I have been involved in several projects focusing on the identification of new disease-genes associated with mitochondrial disorders and functional characterization of the corresponding proteins in cellular models through biochemical and molecular methods, and in vitro evaluation of experimental therapeutic approaches.

 

To date, my research activity aims at the identification, through next generation sequencing (NGS), of new genes and variants not previously associated with human pathology, responsible for mitochondrial diseases, and in particular their functional characterization in cellular models to understand the physiological role of the related protein, to unravel the altered cellular mechanisms, to demonstrate the direct causal role of the identified mutations, to extend genotype-phenotype correlations and to identify targets and / or biomarkers for future therapeutic strategies.

 

Topics of interest

• Mitochondrial Diseases
• Cellular Models of Genetic Diseases
• Next Generation Sequencing (NGS).

 

 

Contacts

+39 02.2394.2621

email: alessia.nasca@istituto-besta.it