Presentazione:

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

 

I graduated in biology with a thesis on biochemistry in patients with ArisulfataseA defect. After one year of internship, I took the state exam, obtaining the qualification to practice as a biologist. In this year I have mainly dealt with biochemical studies (enzymatic assays and radiochemical assays) in cells of patients suffering from mitochondrial diseases.

 

Research activity

In the following years I also learned some molecular biology techniques, mainly Sanger sequencing method, DNA fragments cloning and RNA molecules study (through cell extraction, reverse transcription and sequencing).

I participated in the validation of the Seahorse microoxigraphic technique in fibroblasts of patients with mitochondrial defect (from nuclear genes).

Lately I have been involved in the implementation of molecular biology techniques, with the advent of Next Generation Sequencing (NGS). A continuous and extensive review of the literature is essential to  offer a complete and updated diagnostic package.

I am perfectly integrated in the organization of the laboratory, my contribution is given by decades of experience that allows me to have an open and proactive mind.

I am a point person for new fellows / attendants that needs to be coordinated and helped in their internship and/or thesis writing.

 

Topics of interest

• Genetics
• Biochemistry
• Rare Diseases 

 

 

Contacts

+39 02.2394.2662

email: federica.invernizzi@istituto-besta.it