Get ready for the EURO-NMD Neuromuscular Neuropathology Webinar Series—an exciting nine-episode journey through the world of muscle biopsies, led by Professor Edoardo Malfatti!
Starting in early November, this series will immerse you in the art and science of muscle biopsies, with each session filled with insights, practical techniques, and pioneering advancements in neuromuscular pathology. This rare opportunity offers a chance to learn from top experts, analyze real-world cases, and refine your diagnostic skills.
Don’t miss this unique series and the opportunity to connect with a passionate community of neuromuscular specialists!
Why attend?
- Gain expertise in muscle biopsy interpretation and applications in diagnosing neuromuscular disorders.
- Learn from top specialists in the field.
- Engage with a vibrant community of professionals and students passionate about neuromuscular health.
Programme
Thursday 07 November 2024 16:00 CET
Episode 1: “Basic techniques for muscle biopsies” delivered by Prof. Tiziana Mongini (Department of Neuroscience of the University of Turin, Italy)
Expert in neuromuscular disorders, with a 40 years-experience in clinical and biological field developed in USA (Columbia University, New York) and then in Italy (University of Torino). Since year 2000, Head of a tertiary Neuromuscular Center, covering the Italian North-West Region. The Neuromuscular Unit includes a Laboratory for Neuromuscular diseases, where muscle biopsies are studied, and a Neuromuscular Clinic with inpatient and outpatient offices. The Unit is part of the Department of Neuroscience and of the ‘University Hospital City of Health and Sciences in Torino, Italy, where routine diagnostic and therapeutical protocols are implemented; The Center takes care of over 1000 patients; the tissue bank contains over 3500 muscle and nerve biopsy specimens. Clinical research experience involves therapeutical trials, observational studies on natural history, genotype-phenotype correlation, and standards of care. Moreover, a personal close collaboration with patients Association has been perfectioned in the last 20 years.
Watch the replay of the webinar here!
Thursday 14 November 2024 16:00 CET
Episode 2: “Electron microscopy for myopathies” delivered by Prof. Giovanna Cenacchi (Head of the Subcellular Pathology and Diagnostics Laboratory, S. Orsola-Malpighi Hospital-University University of Bologna)
Giovanna Cenacchi is Associate Professor of Pathological Anatomy at the School of Medicine and Surgery of the Alma Mater University of Bologna. She is the Head of the Subcellular Pathology and Diagnostics Laboratory of the Department of Biomedical and Neurological Sciences, Section of Pathological Anatomy and Head of the Simple Structure “Pathology and Ultracellular Diagnostics” at the Pathological Anatomy Operative Unit, S.Orsola University Hospital Malpighi. The research activity is focused in the neuropathological field on the study of the etiopathogenetic mechanisms of rare and muscular diseases and of high-grade neoplasia of the central nervous system. She is President of the Italian Association of Neuropathology and Clinical Neurobiology, AINPeNC, Coordinator of the Italian Group of Ultrastructural Pathology, GIPU of the Italian Society of Pathological Anatomy, SIAPEC, and Head of the European working group for electron microscopy, EMWG, of the European Society of Pathology, ESP. She is Director of the Summer School “Innovation and technological management of medical and pharmaceutical biotechnologies”. She is the author of 145 publications in international scientific journals with Impact Factor.
Watch the replay of the webinar here!
Thursday 21 November 2024 16:00 CET
Episode 3: “Muscle pathology of storage diseases with focus on plyglucosan and lipid storage myopathies” delivered by Prof. Anders Oldfors (University of Gothenburg, Sweden)
Anders Oldfors’ research group is focused on muscle diseases. This is a large group of different diseases, which cause muscle weakness as the main symptom. The diseases may start at infancy or in adulthood and cause in many cases severe muscle impairment. The aims of our research are to identify the cause of disease and the genetic background in cases of hereditary muscle diseases. We combine clinical investigations with microscopic studies on biopsies of the affected tissue, the muscle, to get clues to the correct diagnosis. By further analyses including a wide spectrum of methods we can understand the disease mechanisms and identify new diseases.
Watch the replay of the webinar here!
Thursday 28 November 2024 16:00 CET
Episode 4: “Myopathology for muscular dystrophies“ delivered by Prof. Edoardo Malfatti (Paris-Est AP-HP, France)
Clinical, myopathology, genetic translational scientist in neuromuscular disorders, with a 15 years-experience developed in Italy (Besta Institute) France (Myology Institute) and Sweden. During my training I had the opportunity to discover new myopathy genes and characterize the clinical and myopathologic phenotypes of novel and already described disorders. Since 2020, I have run a research group on translational medicine of neuromuscular disorders at the Inserm, which is part of the Stategic pole Translamuscle funded by the patients advocacy AFM-Téléthon. The aims of my research consist in dissecting the pathophysiology of neuromuscular diso rders using an holistic bed-to bench- and back to patients bed approach to develop novel therapeutic approaches for myopathies including gene therapies and drug repurposing strategies. In 2020 I created with Isabelle Richard the French National Registry for Calpainopathies and I run a Natural history study for Calpain 3 LGMD R1 in the perspective of a gene therapy clinical trial.
Watch the replay of the webinar here!
Thursday 05 December 2024 16:00 CET
Episode 5: “The role of muscle biopsy in inflammatory myopathies” delivered by Prof. Werner Stenzel (Charité – Universitätsmedizin, Berlin, Germany)
“I am a Neuropathologist and Myopathologist and board certified in general Neurology and in Neuropathology. Currently I am the head of the neuromuscular diagnostic and research unit in Berlin at the Charité Hospital. I also act as co-Director of the German reference center of Neuromuscular diseases. My primary research interest is in juvenile and adult forms of Myositis and inflammatory nerve pathologies. Several colleagues from all over the world have spent some time with us in the lab and in diagnostics as well as in research. It has always been a pleasure to welcome guests but also, it is my declared aim to support their research. I also have a focus in ultrastructural myopathology, which we use in diagnostic routine as well as in research questions related to the identification and characterization of morphological features. In addition, I am an Associated Editor of the journal Neuromuscular disorders (NMD), and an Executive Editor for Neuropathology and applied Neuropathology (NAN). My commitments also extend to the European Neuromuscular Centre where I am a member of the research committee. I have organized several workshops, and I have participated in numerous ones. The 19th WMS meeting in 2014 was organized by Hans-Hilmar Goebel, Arpad von Moers, and myself as a local chair in Berlin. I have close scientific and society-related bonds to numerous individuals in the society.”
Watch the replay of the webinar here!
Thursday 12 December 2024 16:00 CET
Episode 6: “The role of biopsy in Congenital Myopathies” delivered by Prof. Dr. Norma Romero (Institute of Myology, Paris, France)
Norma B ROMERO MD, PhD, is a specialist physician at the Groupe Hospitalier Pitié-Salpêtrière, Sorbonne University, in Paris, France.
She headed the Neuromuscular Morphology Unit at the Institute of Myology (from 2002 to 2021 included), with the aim of analysing muscle biopsies from patients, both children and adults, for diagnostic purposes and identifying and characterising new forms of myopathy and new phenotypes.
It has always been interested in the study of genetic neuromuscular diseases and more particularly congenital myopathies (CM). The team has contributed to the identification of several new forms of CM as well as to the identification of different phenotypes of certain myopathies and the recognition of relevant morphological markers (Dusty cores, Necklace fibres). They took part in the national Myocapture network (>1000 exomes) directed by Jocelyn Laporte. We performed the Atlas of Muscle free available in the Myology Institute web side. Moreover, we also participate to numerous national and international collaborations.
Dr Norma B ROMERO participate actively from de beginning to the organisation of Summer School of the Myology Institute (AcadeMYO) and Summer school Latin-American (EVELAM).
Thursday 19 December 2024 16:00 CET
Episode 7: “Novel approaches and future developments in Neuromuscular Pathology” delivered by Prof. Edoardo Malfatti (Paris-Est AP-HP, France)
Clinical, myopathology, genetic translational scientist in neuromuscular disorders, with a 15 years-experience developed in Italy (Besta Institute) France (Myology Institute) and Sweden. During my training I had the opportunity to discover new myopathy genes and characterize the clinical and myopathologic phenotypes of novel and already described disorders. Since 2020, I have run a research group on translational medicine of neuromuscular disorders at the Inserm, which is part of the Stategic pole Translamuscle funded by the patients advocacy AFM-Téléthon. The aims of my research consist in dissecting the pathophysiology of neuromuscular diso rders using an holistic bed-to bench- and back to patients bed approach to develop novel therapeutic approaches for myopathies including gene therapies and drug repurposing strategies. In 2020 I created with Isabelle Richard the French National Registry for Calpainopathies and I run a Natural history study for Calpain 3 LGMD R1 in the perspective of a gene therapy clinical trial.
Thursday 09 January 2025 16:00 CET
Episode 8: “The role of biopsy in Autophagic Myopathies” delivered by Dr. Teresinha Evangelista (Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France)
Dr. Teresinha Evangelista has over 20 years’ experience working as a Neurologist and later as a Consultant at the Neurosciences Department of the Hospital de Santa Maria in Lisbon. These roles have been completed in conjunction with research work as a member of the Neuromuscular Research Unit at the Institute of Molecular Medicine as well as has ab Invited Lecturer at the Faculty of Medicine at Lisbon University in addition to a range of other teaching and advisory posts. […] Her work currently focuses on clinical and research work on hereditary muscle diseases, FSHD and Congenital Myasthenic Syndromes. Simultaneously as a member of the Joint Actions for rare diseases (EUCERD Joint Action and RD-Action), developed a particular interest on Rare Diseases policies. As a result of the policy work become responsible for the concept and setting up of the neuromuscular ERN (EURO-NMD) that integrates 82 healthcare providers from across Europe.
Thursday 16 January 2025 16:00 CET
Episode 9: “The role of biopsy in acquired myopathies, other than inflammatory myopathies” delivered by Prof. François-Jérôme AUTHIER (Henri Mondor-Hospital – AP-HP, Paris, France)
More info to come!