Presentazione:

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

 

I graduated in Biological Sciences in 1991 and have been working at this Foundation ever since. Since 2019 I’ve been attending the School of Specialization in Medical Genetics at University of Milan. My field of interest has always been inherited metabolic diseases, I have been particularly dealing with Mitochondrial Diseases for more than twenty years.

 

Research activity

Since 2012 I have been the coordinator of the diagnostic process of Mitochondrial Pathologies for the Unit, I maintain the relationships with clinicians and geneticists and organize the flow of information and the work of the dedicated staff.

In this fiels, I take care of the drafting of all the reports of biochemical and molecular investigations performed by traditional methods and Next Generation Sequencing; I update the database of mitochondrial patients, strictly connected to the collection of biological samples, indispensable tools for research for genotype-phenotype correlation studies, for the improvement of the diagnostic score and to provide useful information for the development of new therapeutic trials.

My activity is the link between diagnostics and research on mitochondrial diseases. I have been the Coordinator of the Quality Management System for all the activities of the laboratory since 2013, therefore I’m actively engaged in the application and maintenance of quality procedures for both diagnostics and research.

I believe that a great resource comes from the possibility of working in a group, in particular through scientific comparison and daily sharing of the most critical aspects of interpreting results and correlating molecular data to clinical aspects.

 

Topics of interest

• Genetics
• Mitochondrial diseases
• Rare diseases

 

 

Contacts

+39 02.2394.2622

email: eleonora.lamantea@istituto-besta.it