IRCCS Stella Maris Foundation

The Stella Maris Foundation is a complex, multi-professional institution (about 300 employees and many students), hosting clinicians, researchers and internationally-known university professors, using advanced technologies and methods to assist the most burdensome disorders that can affect a human person during his/her development. The Laboratory of Molecular Medicine for Neurodegenerative Diseases was established in 2010 as an evolution of the Neurogenetics Laboratory, established in 1999 as a scientific and technological development of neurobiology to investigate the role of genetics in the field of neuropsychiatry.

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Role of IRCCS Stella Maris Foundation in the project INGENE 2.0

Thanks to its wide experience in the field of neuromuscular diseases, the Stella Maris Foundation, acts as the clinical center of reference for the project, and coordinates both the recruitment of the study population and the experimentation of the new protocols and products developed in InGene on such population. Furthermore, the Stella Maris Foundation will be responsible for implementing innovative strategies for phenotype/genotype analysis in the diseases included in the project.

Profile of staff engaged in the project

Filippo M. Santorelli Filippo M. Santorelli PhD in Neuroscience, Neurophysiology and Neurorehabilitation, he has carried out research activity applied to the clinic in the field of molecular genetics, in particular of mitochondrial genetics, at the Columbia University in New York, focusing on molecular genetics of muscular and neurodegenerative diseases, especially those with a pediatric onset. Since January 2010, he has been a Level II Medical Director, Director of the Molecular Medicine Unit for Neurodegenerative and Neurogenic Diseases at IRCCS Stella Maris Foundation. He is the author of over 380 scientific articles, book chapters and conference proceedings in the field of neuromuscular and neurodegenerative diseases and their genetic determinants.

Anna Rubegni Anna Rubegni born in Siena in 1982 - in 2007 she graduated in Medicine and Surgery and in 2013 she was awarded the title of Neurologist with honors. Since the School of Specialization, she has achieved a wide knowledge in clinical neurological, histopathological and molecular genetics of neuromuscular diseases. Since 2013, she has performed clinical and research activities at the IRCCS Stella Maris Foundation, Complex Operative Unit of Molecular Medicine, Neurodegenerative and Neuromuscular Diseases. She is author of peer-reviewed articles and congress acts in the field of neuromuscular and neurodegenerative diseases.