Research, members
Founding members
President:
Prof. Giorgio Perilongo
Vice president:
Dr. Maurizio Scarpa
Councilmen:
Dr. David John Begley, Dr. Michel Heard, Dr. Bryan Winchester
Other members:
Andrea BALLABIO, MD PhD
Telethon Institute of Genetics and Medicine scientist (TIGEM - Italy)
One of the major world recognized genetic opinion leader, expert in molecular biology and therapy of rare diseases, he has contributed in highlighting the molecular mechanisms of several rare genetic diseases from the gene detection and isolation to the description of the pathological mechanisms. In the project he will share his experience studying authophagy, and inflammation processes.
David BEGLEY, PhD
Kings College London (KCL - United Kingdom)
Is a constituent part of the Pharmaceutical Sciences Research Division, one of the major world recognized opinion leader in the field of Blood Brain Barrier function. He has contributed to the understanding of the function of BBB, his major contribute to the project will be the analysis of possible effects of storage and secondary effects of storage on the BBB . He will analyse the effect of storage on BBB.
Ingolf BLASIG, PhD
Leibniz-Institut für Molekulare Pharmakologie Berlin e.V. (FVB) basic scientist
One of the major world recognized opinion leader in the field of tight junction study aimed to the engineering proteins to cross the BBB. His major interest is the understanding of the function of tight junction and develop methods to cross the BBB by and a physiological opening of he tight junction. He will develop recombinant proteins able to cross BBB
Tony FUTERMAN, PhD
The Weizmann Institute of Science (Weizmann), basic scientist
One of the major world recognized opinion leader in the study of pathophysiology of LSDs and the understanding of the involvement of ion channels in particular Calcium and Sodium channels. Storage is indeed altering the capacity of maintaining homeostasis through ion exchanges, Prof Futerman’s work is aimed at the understanding of the effect of this secondary event in the process of cell alteration and death.
Volkmar GIESELMANN, MD
Professor of Biochemistry University of Bonn (D)
One of the major world recognized scientist in the field of Neurodegenerative disorders, in particular Metachromatic Leukodystropies, President of the European Study Group for Lysosomal Diseases .He is developing animals model for neurodegenerative disorders, analysis of pathophysiological patterns responsible for these diseases and designing new approaches for the therapy of LSDs.
Jean Michel HEARD, MD PhD
Pasteur Institute Paris (France)
He is a pioneer in the treatment of LSDs and in the understanding of pathophysiology of the LSDs, his work on transduction of therapeutic proteins in brains of animal models for LSDs are milestones in the field of LSDs. His major recent work is devoted to plasticity and study of restoration of the brain function. He will analysed these aspects in the project.
Giorgio PERILONGO, MD
Dept. Of Paediatrics University of Padova
Neurologist recognised for his studies on pathophysiology of brain alteration in expansive disorders.
Frances PLATT, PhD
Department of Pharmacology, University of Oxford basic scientist
One of the opinion leader in the field of understanding and teatment of LSDs. She is interested in developing small molecules therapies for neurodegenerative diseases. She was the first to describe the use of miglustat as a treatment for LSDs, an approach termed substrate reduction therapy. She has recently highlighted the role of altered metal ion metabolism in the pathophysiology of LSDs as a secondary consequence of storage.
One of the major world recognized opinion leader in the field of understanding pathophysiology of LSDs due to alteration of metal metabolism. She is interested in developing small molecules therapies for neurodegenerative diseases , she has the first to describe the use of miglustat in LSDs, as substrate deprivation therapy.
She will highlight the role of metal metabolism in the pathophysiology of LSDs as secondary effect due to storage material
Maurizio SCARPA, MD PhD
Department of Paediatrics, University of Padova, Italy.
Has extensive experience in the fields of molecular biology and biochemistry. He has vast clinical experience in the diagnosis and treatment of lysosomal storage disorders (LSDs) and neurometabolic diseases, and is especially interested in developing diagnostic assays and new approaches for the treatment of LSDs
Bryan WINCHESTER, PhD
University of London Biochemist basic Scientist (United Kingdom)
One of the world leaders in the understanding of metabolic patterns of lysosomal enzymes and pathophysiology of neurodegenerative disorders. He made a fundamental contribution in developing techniques which allowed the set of modern methods for the newborn screening of metabolic disorders.
Other members
Johannes Maria Franciscus Gerardus Aerts, Generoso Andria, Ben A. Bahr, Gianfranco Bazzoni, Michael Beck, Fatima Bosch, Seng H. Cheng, Maureen Anne Cleary, Jonathan Cooper, Pierre-Olivier Couraud, Timothy M. Cox, A. (Bert) G. de Boer, Gaetano Finocchiaro, Gert Wilhelm Mathias Fricker, Hans-Joachim Galla, Roberto Giugliani, John Greenwood, Mark Gumbleton, Stephen Lewis Hart, Jorg Kreuter, Alberta Leon Cananzi, Thierry Levade, Helen Michelakakis, Elke miebach, Stephen Minger, Joseph Muenzer, Rossella Parini, Gregory M. Pastores, Gudrun Schulze Frenking, Ashok Vellodi, James Edmond Wraith, Dimitrios I. Zafeiriou