Les Chercheurs

Andrea Ballabio

Professor Telethon Institute of Genetics and Medicine (TIGEM) and Baylor College

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Andrea Ballabio was born in Naples, Italy on January 27th, 1957. After his graduation in Medicine in 1981 from the University of Naples, Italy, he took residency training in Pediatrics at the same. He has spent several years working in the field of genetic diseases – first in Italy, then in the UK, and subsequently in the USA where he held the positions of Associate Professor of Molecular Genetics and Co-director of the Human Genome Center at the Baylor College of Medicine in Houston, Texas. He is the founder and director of TIGEM in Naples, Italy. He is also Professor of Medical Genetics at the Faculty of Medicine of the University of Naples “Federico II” and Professor of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas.

Prof. Ballabio’s research interests are the elucidation of the biological mechanisms underlying genetic diseases, using both traditional and state of the art genomic approaches, and the development of innovative therapeutic approaches. Prof. Ballabio’s team has identified numerous genes whose mutations cause human inherited diseases, leading to the unraveling of their pathogenetic mechanisms. His contributions to gene mechanisms in health and disease are found in X-inactivation (XIST), axonal targeting (Kallmann s.), melanosome biogenesis (ocular albinism), mitochondrial biogenesis (hereditary spastic paraplegia), post-translational protein modification (multiple sulfatase deficiency) and the role of autophagy in lysosomal storage diseases.

He coordinated the development of the expression atlas of the human genome. Among his recent and major discoveries is the identification of a gene network regulating lysosomal biogenesis and autophagy and modulating cellular clearance. He has published over 270 papers in prestigious, international scientific journals. Prof. Ballabio was the President of the European Society of Human Genetics and is currently a Council member of the European Molecular Biology Organization().

He is a recipient of an Advanced Investigator Grant from the European Research Council (ERC). He has received numerous national and international awards for research and culture, among them the 2007 Award of the European Society of Human Genetics. In 2007 he was appointed “Commendatore of the Italian Republic” by the President of Italy Giorgio Napolitano.

Brian Bigger

Senior Research Fellow, University of Manchester

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Dr Bigger was awarded a Bachelors degree from the University of Bath in Applied Biology. His PhD was conducted in the Gene Therapy Research Group, Imperial College, London, where he worked with Professor Charles Coutelle on developing a gene delivery vehicle for mitochondrial gene therapy. On completion of his PhD in 2000, Dr Bigger joined Dr Mike Themis at Imperial College, London to work on a Wellcome Trust collaborative project with Cancer Research UK, which investigated gene delivery to stem cells for liver diseases. In 2004 he joined Dr Suzanne Watt’s group at Oxford University and the National Blood Service as a Senior Research Scientist to work on mechanisms of stem cell homing. In 2006 Dr Bigger set up the MPS Stem Cell Research laboratory at the University of Manchester and the Royal Manchester Children’s hospital. Recently, the lab has been renamed the Stem Cell & eurotherapies laboratory to reflect its wider remit in developing stem cell gene therapy and other treatments for neudegenerative lysosomal diseases and also for primary brain tumors.

Meet Dr. Bigger as he discusses the important role that patient groups have in treatment discovery.


Alessandro Fraldi

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Alessandro Fraldi graduated with a Biological Science degree in 1999 and in 2003 obtained his Ph.D. in human genetics from the University of Naples “Federico II”, Italy. While pursuing his Ph.D, he lived in France and conducted research at the “Ecole Normale Superieure” in Paris, where his focus was transcription studies using mammalian and yeast cellular models.

In 2004, he began his postdoc training in genetic diseases under the mentorship of Professor Andrea Ballabio at Telethon Institute of Genetics and Medicine (TIGEM) in Naples. From 2005 to 2006, he continued his postdoc under the stewardship of Professor John Hopwood at Women’s Children’s Hospital in Adelaide, Australia. From 2006 to 2011, he served as a Senior Research Associate at TIGEM. Since 2011 he has been a Group Leader at TIGEM.

Alessandro is mainly interested in the study of Lysosomal Storage Disorders (LSDs). His interest includes the study of mechanisms underlying the neuropathogenesis of LSDs to developing new therapeutic approaches for the treatment of these disorders. In 2003 and 2005, he was a recipient of the EMBO fellowship. He is a member of the editorial board of the ISRN Cell Biology Journal. The research of Dr. Fraldi led to the development of a novel AAV-mediated gene therapy approach for MPS-IIIA, a study that constituted the framework for designing the first clinical trial for MPS-IIIA patients and is now in phase I/II development. The research of Dr. Fraldi also has been supported and funded by several national and international agencies including National MPS Society (2009), Italian Telethon Foundation (2011), Mariani Foundation for Pediatric Neurology (2011) and Jonah’s Just Begun Foundation (2012).

Daniel Grinberg

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Dr. Grinberg obtained his PhD in Genetics from the University of Barcelona, Spain in 1986. He then went to London, to the Imperial Cancer Research Fund, for his postdoctoral training (1987-1990). In 1990 he earned a permanent position as Associate Professor of Genetics in the Department of Genetics, Faculty of Biology, University of Barcelona, followed by a Full Professorship in Genetics in 2008.

In 1992, alongside Dr. Lluïsa Vilageliu, Dr. Grinberg established a research group for the study of the genetic basis of lysosomal storage disorders. At the same time, he started a parallel group with Dr. Susana Balcells, this one dedicated to the genetic bases of other monogenic and multifactorial diseases, such as Retinitis Pigmentosa, Osteoporosis and Homocystinuria.

Daniel Grinberg is the primary investigator for a group (which includes the research lines mentioned above) considered to be a Quality Research Group by the Government of Catalunya. This group is part of several networks and institutes, among them the Spanish Network of Biomedical Research on Rare Diseases (CIBERER) and the Institute of Biomedicine at the University of Barcelona.

Daniel Grinberg was the Head of the University of Barcelona’s Department of Genetics from 2008 to 2012. His teachings include various undergraduate and master courses on Molecular and Human Genetics and, at the research level, the search for therapies for lysosomal diseases and the study of the genetic basis of bone diseases.

His research has been acknowledged and supported by different national and international agencies such as: the Spanish “Ministerio de Educación y Ciencia” and “Ministerio de Ciencia e Innovación”, “Generalitat de Catalunya”, “CIBER de Enfermedades Raras (CIBERER)”, the European Comission, and patient associations such as “Fundación Niemann-Pick de España”, “Federación de asociaciones de Mucopolisacaridosis y síndromes relacionados” or the “Jonah’s Just Begun- Fundation to Cure Sanfilippo”.

Alexey Pshezhetsky

Professor, University of Montreal

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Dr. Alexey Pshezhetsky graduated from the Department of Chemistry, Moscow State University in 1985. In 1989 he obtained his Ph.D. degree in chemical kinetics and catalysis from the same university. From 1989 to 1992 he was a researcher at Moscow State University and Moscow Institute of Medical and Biological Chemistry studying genetic diseases in children caused by the inherited deficiencies of lysosomal enzymes. In 1993 Dr. Pshezhetsky joined the Departments of Pediatrics and Biochemistry at the University of Montreal where he was subsequently promoted to professor. He is also affiliated with the Department of Anatomy and Cell Biology at McGill University. Since 1998 he has been a scientific director at the Medical Genetics Diagnostic Laboratory and a director of a laboratory focused on lysosomal biology at Ste-Justine Hospital Research Center.

Dr. Pshezhetsky’s research has been acknowledged by multiple national and international agencies including the Canadian Institutes of Health Research, Canadian Foundation for Innovation, Genome Canada, Genome Quebec, March of Dimes Foundation, Vaincre les Maladies Lysosomales and others. Additionally, Dr. Pshezhetsky has received numerous career awards and fellowships including a National Investigator Award from FRSQ and an Award of Excellence in Pediatric Research from the Foundation for Research in Children’s Disorders. Current research interests include molecular basis of lysosomal and other inherited metabolic disorders, glycobiology, proteomics and functional genomics of the cell.

Luïsa Vilageliu

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Dr. Vilageliu obtained her PhD in Genetics from the University of Barcelona in 1981. In 1985 she was named Associate Professor of Genetics at the Department of Genetics, Faculty of Biology, University of Barcelona. In 2003, she was made a Full Professor in Genetics at the same University. She took a sabbatical at the Department of Biochemistry of the University of Oxford (U.K.) from 1990 to 1991.

In 1992, she and Dr. Daniel Grinberg co-founded a research group for the study of the genetic basis of lysosomal storage disorders. The studies included the identification and characterization of mutations for several lysosomal diseases. At present, they are focused on the development of cellular models and different therapeutic approaches for these disorders, in particular, Sanfilippo C syndrome, for which they have established a human neuronal cell model through the generation of iPS cells. The therapeutic strategies are based on the use of siRNAs and shRNAs, chaperones, aminoglycoside antibiotics and antisense oligonunucleotides, depending on the type of mutation to be treated. This research has been acknowledged and supported by several national and international agencies, among them: the Spanish “Ministerio de Educación y Ciencia” and “Ministerio de Ciencia e Innovación”; “Generalitat de Catalunya”; “CIBER de Enfermedades Raras (CIBERER)”; “Fundación Niemann-Pick de España”; “Federación de asociaciones de Mucopolisacaridosis y síndromes relacionados” and the “Jonah’s Just Begun- Fundation to Cure Sanfilippo”.

Jérôme Ausseil

 Maître de Conférences-Praticien Hospitalier, CHU Hôpital Sud, Amiens

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Dr J. Ausseil obtained his PhD in Biochemistry from the University Pierre et Marie Curie (Paris 6) in 1999. From 2000 to 2004, he joined Pr A. Pshezhetsky’s lab at Ste-Justine Hospital in Montreal for his post-doctoral training. In 2004, he was recruited as a researcher at the Institut Pasteur in Paris and worked in the group of Dr J-M Heard. In 2009, he obtained a permanent position at the University Hospital of Amiens. He is associate professor in Biochemistry and physician at the hospital biochemistry department. He founded his own research team and work on the pathophysiology study of MPS III disease. His work allowed the discovery of the gene responsible of the MPSIIIC disease. He has also contributed to the development of a gene therapy program in the brain of MPSIIIB patients. The main goal of his current work is to characterize the mechanisms of the neuropathology present in the brain of Sanfilippo patients. Since 2010, he is member of the Association Vaincre les Maladies Lysosomales (VML) scientific board. This research has been acknowledged and supported by several national and international agencies as VML, Sanfilippo Sud, Alliance Sanfilippo, Conseil Franco-Québécois pour la Coopération Universitaire (CFQCU) and the Canadian MPS Society.

Grâce à leurs connaissances et leur expérience dans les maladies de surcharge lysosomale, ces scientifiques vont sûrement nous apporter un traitement pour le syndrome de Sanfilippo.