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

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.

Guja Astrea Guja Astrea was born in Livorno in 1978 - in 2003 she graduated in Medicine and Surgery and started her specialist course at the IRCCS Stella Maris Foundation where, in 2009, she obtained the title of Child Neuropsychiatrist with honors. After a period of study abroad (Great Hormond Hospital - London) she obtained a PhD in Basic Neuroscience and Development. Thanks to her studies, she was able to deepen her knowledge in neurological, neuropsychological and psychiatric fields. Her main field of intervention concerns genetic and neurological diseases, typical and atypical early development and learning disorders. She has participated in several national and international congresses and lectures to university students and students under training. She actually performs high-level research at the IRCCS Stella Maris Foundation and is author of several scientific publications in various fields.

Rosanna Trovato Rosanna Trovato graduated in 2010 in Biomedical Laboratory Techniques, in 2013 she obtained a Master in Management and Coordination of Technical and Diagnostic Health Professions. In 2010, she started her career at the Molecular Medicine Laboratory of the IRCCS Stella Maris Foundation investigating the genetic characterization of neuromuscular and neurodegenerative diseases. Then, she started focusing on the application of new diagnostic techniques, such as Next Generation Sequencing, for the study of exomes in patients without a molecular genetic diagnosis. She has participated in several national congresses and courses allowing her to increase her technical and scientific skills.

Silvia Frosini Silvia Frosini is a neuro and psychomotor therapist of the developmental age at IRCCS Stella Maris Foundation. She had a role as Lecturer at the Laurea Degree in Developmental Neuro and Psychomotor Therapy of the Developmental Age at the Faculty of Medicine and Surgery of the University of Pisa. She gained a twenty-year experience in the functional evaluations of young children and adults with neuromuscular diseases applying the assessment scales and novel outcome measures in clinical and therapeutic trials. She is the author of several scientific publications

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.