Raffaella Brugnoni

Presentazione:

BIOLOGA
SC Neurologia 4 - Neuroimmunologia e Malattie Neuromuscolari
(italian version)

I have been working in the FINCB since 1993. I have a long experience in the field of molecular biology, and, in particular, I set up the development of protocols for the genetic analysis of pathological mutations in the field of neuromuscular pathologies, such as Duchenne / Becker Muscular Dystrophy, Type 1 Myotonic Dystrophy, Congenital Myasthenia Syndromes, Congenital Myotonia Thomsen and Becker, Congenital Paramiotinia, Hypokalemic and Hyperkalemic Periodic Paralysis, Malignant hyperthermia and other skeletal muscle channelopathies.

Research activity

In the last few years, I studied two panels of genes associated with neuromuscular and neuromuscular junction channelopathies using the Next Generation Sequencing method, starting from the design of the panels up to the analysis of the data obtained. I used dedicated software for the design, data analysis and prediction of pathological variants to identify mutations and novel disease-associated genes. I’m also working on a project in the field of pharmacogenomics, for the research of SNPs that can lead to a different response to drug treatment with mexiletine in patients suffering from non-dystrophic myotonias or myotonic dystrophies.

I was responsible, from 2005 to 2010, of the laboratory of the NBS Biotech Consortium (FINCB was one of the partners) carrying out activities of: start-up of the new laboratory, staff coordination, organization of a portal for managing customer orders, fine-tuning of the production process (from receipt of customers’ orders to their processing and delivery of results), sequencing and synthesis of oligonucleotides for external and internal customers, and participation in the board of the consortium.

Topics of interest