Scientific Committee
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Alessandro Fraldi
Short CV
Alessandro Fraldi, is currently associated Professor in Medical Genetics, at the Department of Translational Medicine, University of Naples ‘Federico II’.
He is also a Faculty Member of the European School of Molecular Medicine (SEMM). From 2004 to 2011, he trained as a postdoctoral fellow at the Telethon Institute of Genetics and Medicine (TIGEM) in Naples and at the “Lysosomal Disease Research Unit” of the Woman’s and Children’s Hospital, Adelaide, Australia.
From 2012 to 2020 he was Faculty and Investigator (Molecular Therapy Program) at TIGEM. In 2021 he moved to CEINGE, where he currently runs a laboratory.
He has authored over 40 original articles published in international peer-reviewed journals including EMBO Molecular Medicine, Molecular Therapy, Developmental Cell and EMBO Journal.
Dr. Fraldi has accumulated a long experience in the study of lysosomal storage disorders (LSD), in particular mucopolysaccharidosis.
Dr. Fraldi’s research focuses mainly on the study of the molecular determinants underlying the neurodegenerative processes in LSD and in the development of innovative strategies for the treatment of the neuropathology of these severe disorders.
One of his lines of research is focused on the study of the pathological relevance of amyloid protein aggregation (aggregation similar to those found in other more common neurodegenerative diseases, such as Parkinson’s and Alzheimer’s) in Sanfilippo’s syndrome and the possibility of inhibiting this aggregation to prevent neurodegenerative processes in these diseases.

Enrico Moro
Biography
Enrico Moro obtained a degree in Molecular Biology in Padua in 1996 and a PhD in Endocrine Sciences in Ferrara in 2001.
After postdoctoral training in Los Angeles-USA (2002-2003) at Cedars Sinai Medical Center (UCLA), he continued his postdoctoral training in Padua from 2004 until 2011.
In 2011, he became a permanent researcher and set up an independent research group called LSDMG (Lysosomal storage disorder Modeling Group). He started as a lecturer in Applied Biology at the School of Medicine in Padua and has been an Associate Professor since 2017.
Professor Moro has always worked in the field of human pathologies. Initially in his research career, he developed a non-viral gene transfer system for gene therapy of Cystic Fibrosis. During his PhD he then focused his research on congenital abnormalities responsible for male infertility and cryptorchidism. Starting in 2002, he undertook research on diabetes and pancreatic development defects.
Subsequently, in 2004, he began working with the zebrafish model to identify genes implicated in the development of abnormalities in various organs, including the pancreas and brain. Among other projects, he also participated in the identification of molecular mechanisms responsible for tumours of the nervous system (glioblastomas) and pancreas. Since 2007, his research has also moved into lysosomal diseases, leading to the generation of models for Gaucher Disease and Mucopolysaccharidosis type 2. Her work over the years has led to the identification of new cell signalling pathways implicated in the bone and heart changes present in the two diseases. His research has recently focused on understanding the molecular mechanisms underlying neuronal and synaptic dysfunction in the two lysosomal diseases.
Author of 62 scientific publications in international journals, he was also co-editor of 2 special volumes on the genetics of infertility. He was recently recruited as co-editor of a special volume of the journal Biomolecules dealing with mechanisms and therapeutic perspectives for lysosomal diseases. He is a member of the Italian Association of Biology and Genetics and is a member of the scientific committee of the International Association of Rare Diseases, ISMRD. He is a reviewer for numerous scientific journals and European and international projects, also proposed by associations dealing with rare diseases. He is also a member of the Editorial Board of Biomolecules and ‘Associate Editor’ of Frontiers in Molecular Biosciences. Since 2021, he has become a member of the Scientific Committee of the Sanfilippo Fighters association.

Giancarlo Parenti
Training
Degree in Medicine in 1980 (Faculty of Medicine, Federico II University, Naples)
Specialisation in Paediatrics (1981-84) (Department of Paediatrics, Federico II University, Naples)
Research training
1979-1985 and 1987-1989: Department of Paediatrics, Federico II University, Naples
1985-1986: Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
September-December 1991 and July-November 1994: Institute of Medical Genetics, Baylor College of Medicine, Houston, Texas, USA.
Work experience
1980-1989: Department of Paediatrics, Federico II University, Naples, Italy
1989-1994: Department of Paediatrics, University of Reggio Calabria, Cata
Current role
– Full Professor of Paediatrics, Dept. of Translational Medical Sciences, University Federico II, Naples
– Assistant Researcher, Telethon Institute of Genetics and Medicine, Pozzuoli.
Main clinical and scientific interests
Congenital errors of metabolism.
School of Medicine and Surgery; University Diploma in Dietetics; School of Specialisation in Paediatrics, University Federico II, Naples.
Member of the Teaching Board of the following PhD courses: PhD in Reproduction and Development, University Federico II; PhD in ‘Medical Genetics’ at the Second University of Naples; PhD ‘European School of Molecular Medicine (SEMM)’.
Member of the European Reference Network for Metabolic Diseases (MetabERN), co-coordinator of the Lysosomal Storage Diseases sub-network.
Member of SIMMESN (Italian Society for the Study of Hereditary Metabolic Diseases and Neonatal Screening), SSIEM (Society for the Study of the Inborn Errors of Metabolism), Italian Society of Paediatrics (SIP), European Pompe Disease Consortium (EPoC). Member of the SIMMESN Council (2002-2005), corresponding member of SSIEM for Italy (2002-2005).

Silvia De Cicco
Postgraduate thesis in Medical Biotechnology at the University Vita Salute San Raffaele in the TIGET laboratory of Dr. Angela Gritti, investigating cellular models to study the lysosomal disease Leukodystrophy Metachromatica (2013-2015).
PhD in Neuroscience from the University of Tuebingen (Germany) in the laboratory of the German Centre for Neurodegenerative Diseases of Dr Michela Deleidi, investigating mechanisms of neurodegeneration in Parkinson’s disease (2015-2019).
Currently researcher in Heidelberg (Germany) at the BioMed X Institute, investigating mechanisms of development in Schizophrenia (from 2020).

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