

Andrew Tosolini
Queen Square Institute of Neurology
Dr. Andrew P. Tosolini completed a Bachelor of Medical Science with Honours in Neuroscience (2006-2010) and a National Health and Medical Research Council (NHRMC) of Australia funded Ph.D. in Anatomy (2011-2015) at the University of New South Wales (UNSW), Sydney, Australia. During his Ph.D., he was awarded the Dean’s Merit List for his outstanding contribution to research as a postgraduate student from the Faculty of Medicine at UNSW. Dr. Tosolini then started a postdoctoral position under the guidance of Professor Giampietro Schiavo in the Department of Neuromuscular Diseases at Queen Square Institute of Neurology, UCL, London in 2016. Dr. Tosolini is currently focusing on the cell biology of motor neurons in health and disease. In particular, he is working on determining the mechanisms governing axonal transport in vulnerable and resistant motor neurons in motor neuron disease/amyotrophic lateral sclerosis. In addition, his focus also explores spinal cord circuitry to understand the mechanisms of transcytosis and neuron-to-neuron communication.

Giampietro Schiavo
Queen Square Institute of Neurology
Giampietro Schiavo gained his degree in Chemistry and Pharmaceutical Technology from the University of Padua (Italy) in 1988, followed in 1992 by a Ph.D. in Biological Sciences under the supervision of Prof. Cesare Montecucco at the same University. From the beginning of his scientific training, he demonstrated a keen interest in addressing the importance of bacterial toxins in human pathogenesis. Working in a multidisciplinary team, he learned the foundation of interdisciplinary research and the basis for translating basic discoveries into medical outcomes. During his studies, he performed functional analyses on how several bacterial toxins, such as diphtheria, pertussis and anthrax toxins, gain access to cells and drive pathogenesis. However, his main focus was understanding the mechanism of action of clostridial neurotoxins. He demonstrated that the inhibition of synaptic activity caused by tetanus and botulinum neurotoxins is due to a specific protease activity directed against synaptic proteins playing fundamental roles in neurotransmitter release. This discovery was instrumental for the field of SNARE biology. Sponsored by an EMBO Fellowship, he then moved to the laboratory of Prof. J. Rothman at the Memorial Sloan Kettering Cancer Center in New York. Here he demonstrated, novel interactions between the synaptic calcium sensor synaptotagmin, SNAREs and phosphoinositides, contributing to a better understanding of the mechanism controlling membrane fusion at synaptic terminals. In 1997, he established his laboratory at the Imperial Cancer Research Fund in London. His high-collaborative research program, which focuses on the analysis of axonal transport in health and disease has yielded important results on the role of mutations of motor proteins in neurodegeneration, regulation of neurotrophin signaling and the mechanism of uptake and retrograde transport botulinum and tetanus neurotoxins to cite a few.

James Sleigh
University College London
Dr. James N. Sleigh completed his Medical Research Council (MRC)-funded DPhil at the University of Oxford (2009-2012) working on the neuromuscular diseases spinal muscular atrophy (SMA) and Charcot-Marie-Tooth disease (CMT). During a four-year Sir Henry Wellcome Postdoctoral Fellowship (2014-2018) from the Wellcome Trust, Dr. Sleigh continued his research on the mechanisms underlying the 2D subtype of CMT (CMT2D) at the Queen Square Institute of Neurology, University College London (UCL). Now funded by a MRC Career Development Award (2019-2024), Dr. Sleigh is a Senior Research Fellow in the Department of Neuromuscular Diseases at UCL, running his own small research group. Using CMT2D as a paradigm, Dr. Sleigh is studying the causes of selective motor and sensory nerve degeneration and the mechanisms underpinning the dynamic process of axonal transport. By improving understanding of neuropathic pathways and associated pathologies, his principal aim is to generate effective, pre-clinical gene therapies for genetic peripheral nerve diseases.

Gerardo Morfini
University of Illinois at Chicago
Dr. Gerardo Morfini’s completed his Ph.D. studies in 1997 at the National University of Cordoba in Argentina. He was later awarded a post-doctoral fellowship from the prestigious Pew Latin American Fellows Program in the Biomedical Sciences, which he completed at the University of Texas Southwestern Medical Center. Dr. Morfini started his own research program in 2007, working as an assistant professor at the University of Illinois at Chicago (UIC). Shortly after his appointment, he was awarded the 2007 Jordi Folch-Pi Award, a recognition given by the American Society of Neurochemistry for his contributions to the field of axonal transport. As an Associate Professor at UIC, Dr. Morfini’s current research program addresses the contribution of specific protein kinases to the axonal pathology observed in various human neurodegenerative conditions including Amyotrophic Lateral Sclerosis, Huntington's disease, Parkinson's disease, and Hereditary Spastic Paraplegias. As part of his summer research program, Dr. Morfini also works at the Marine Biological Laboratory (Cape Cod, MA) during the summers, where he performs experiments using the isolated squid axoplasm preparation. He has authored over sixty peer-reviewed papers, review articles, and book chapters. Dr. Morfini has received funding from the National Institutes of Health, as well as foundations supporting research on Amyotrophic Lateral Sclerosis, Huntington’s disease, and Parkinson’s disease.
Axons are the main line of information transmission among neurons. Accordingly, axonal pathology represents a common pathogenic feature associated with loss of neuronal connectivity in multiple unrelated neurodegenerative diseases including Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, and motor neuron diseases. Therefore, the study of the mechanisms and molecular events within axons bears important implications for a complete understanding of neuronal cell biology in both healthy and disease conditions.
Even though axons represent the largest subcellular compartment of neurons, addressing axon-specific effects has remained a major challenge to the field of Cellular Neurobiology. As most cellular and animal models involve translation of recombinant DNA constructs in the neuronal soma, it is often difficult to discern whether effects triggered from the resulting recombinant proteins take place within axons, or are an epiphenomenon associated with alterations in the neuronal cell body itself. In this collection, we present a variety of experimental systems and methodologies for the study of cellular processes and molecular events within the axonal compartments, including the intracellular trafficking of membrane-bounded organelles by motor proteins (axonal transport), the regulation of axonal cytoskeleton dynamics, and the phosphorylation of axonal proteins.
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Nicolás Stuardo1,2, Guillermo Moya-Alvarado1,3, Carolina Ramírez1,3, Giampietro Schiavo4, Francisca C. Bronfman1,3
1Department of Physiology, Faculty of Biological Sciences, Pontificia Universidad Católica de Chile, 2Department of Molecular and Cellular Biology, Faculty of Biological Sciences, Center for Aging and Regeneration (CARE UC), Pontificia Universidad Católica de Chile, 3Institute of Biomedical Sciences. Faculty of Medicine and Faculty of Life Sciences, Universidad Andrés Bello, 4Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and UK Dementia Research Institute at UCL, University College London Campus
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