Networking Support Scheme : Funded Networking Events

Round 1 (Collection date March 2020)

ApplicantsCountry

McKay, Dave M. (Principal applicant)

Aniridia Network

United Kingdom

van Heyningen, Veronica

Institute of Ophthalmology, University College London

United Kingdom

Sánchez de Vega, Rosa

Aniridia Europe

Norway/Spain

Moosajee, Mariya

Institute of Ophthalmology, University College London

United Kingdom

Bylė, Irma

Association “AniridijaLT”

Lithuania

Lima Cunha, Dulce

Institute of Ophthalmology, University College London

United Kingdom

Damante, Giuseppe

Dept. Medicine, University of Udine

Italy

Hall, Hildegard Nikki

MRC Institute of Genetics and Molecular Medicine, University of Edinburgh/ Princess Alexandra Eye Pavilion, Edinburgh

United Kingdom

Grupcheva, Christina

Dept. Ophthalmology and Visual Science, Varna Medical University

Bulgaria

Tsoneva, Elena

Association Aniridia Bulgaria

Bulgaria

Abstract
This event enables sharing of specialist knowledge about the rare genetic eye condition aniridia. Its goal is to develop better understanding to tackle sight loss and other effects of to aniridia. Professionals such as: ophthalmologists, researchers, vision scientists, and geneticists will gather with people who have aniridia and their relatives, to upskill each other. Aniridia is visual impairment present at birth. Most people with aniridia have all or part of their irises (the coloured rings in the eyes) missing. Other parts of the eye are typically under-developed. Other conditions often lead to further sight loss. Aniridia is usually caused by an abnormality in a gene called PAX6. It also controls brain and pancreas functions. So patients may also have disturbed sleep and predispositions to obesity or diabetes. It can occur as part of more significant condition known as WAGR/11p Deletion Syndrome. Understanding aniridia is challenging, due to the scattered patient population, its highly variable impact and complications of linked conditions. This event innovatively addresses this by bringing all the stakeholders together for 3 days. Researchers and clinicians will discuss their latest work and experience of the disease, with contributions from patients. New approaches to clinical management, drug development, and stem cell therapy will be presented. There will also be tours of the laboratories at UCL Institute of Ophthalmology. Patients and relative have the unique chance to get a free 30 minute consultation with the world’s top aniridia experts at Moorfields Eye Hospital.

Applicants

Country

Schermer, Bernhard (Principal applicant)

Department II of Internal Medicine, Nephrolab,

University Hospital of Cologne

Germany

Firat-Karalar, Elif Nu,

Dept. of Molecular Biology and Genetics, Koç University

Turkey

Čajánek, Lukáš

Faculty of Medicine, Dept. of Histology and Embryology, Masaryk University

Czech Republic

Wloga, Dorota

Nencki Institute of Experimental Biology, Polish Academy of Sciences

Poland

Harris, Tess

Ciliopathy Alliance

United Kingdom

Mill, Pleasantine

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh

United Kingdom

Blacque, Oliver

Conway Institute; School of Biomolecular and

Biomedical Science, University College Dublin

Ireland

Jurisch Yaksi, Nathalie

Kavli Institute for Systems Neuroscience, Norwegian University of Science and Technology

Norway

Meunier, Alice

Institut de Biologie de l’Ecole Normale Supérieure, CNRS

France

Abstract
Cilia are tiny, antennae-like cell organelles that can be found on almost all cells of the human body. Research has revealed, that a growing number of genetic diseases result from defects in cilia collectively termed the ‘ciliopathies’. Some cilia are motile and involved in moving either liquids or cells within the body, whilst other cilia are immotile and transmit key signals from outside to the cell’s interior. Since cilia occur within virtually all tissues, the spectrum of cilia-associated diseases is very broad, affecting the kidneys, lungs, brain, eyes and many more. The ciliopathies represent a spectrum of ~40 overlapping syndromes caused by mutations in nearly 200 genes. Whilst often very rare individually, collectively the ciliopathies are thought to affect 1:1000 births. In October, basic researchers and clinicians from all over the world will meet in Cologne at “Cilia2020”. As the largest cilia conference, it uniquely integrates patients and their representatives in the program with the aim of promoting bidirectional interactions between scientists and those impacted by ciliopathies. In 2020, we aim to expand this meeting to countries typically underrepresented in any international research networks and to enlarge the community. Our “Cilia2020 – Interconnect” satellite events aim to sustainably enhance diversity of the cilia/ciliopathy community within and around Europe. This will accelerate gene discovery and improve understanding of disease mechanisms, as well as facilitating development of much needed therapies for ciliopathies.

Applicants

Country

Sireau, Nicolas (Principal applicant)

The AKU Society

United Kingdom

Santucci, Annalisa

Biotechnology Chemistry & Pharmacy, Università degli Studi di Siena

Italy

Lakshminarayan, Ranganath

Clinical Biochemistry & Metabolic Medicine, Royal Liverpool Hospital, Liverpool University Hospitals

United Kingdom

Zatkova, Andrea

Biomedical Research Centre, Institute for Clinical and Translational Research, Slovak Academy of Sciences, Bratislava

Slovak Republic

De Kock, Joery,

Dept Toxicology, Vrije Universiteit Brussel (VUB), Faculty of Medicine and Pharmacy

Belgium

Imrich, Richard

Biomedical Research Centre, Institute for Clinical and Translational Research, Slovak Academy of Sciences, Bratislava

Slovak Republic

Kujawa, Mariusz

Radiology, Institution Medical University of Gdansk

Poland

Gallagher, James

Dept  Musculoskeletal Biology, University of Liverpool

United Kingdom

Abstract
Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition, which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in every 250,000 people worldwide. It causes a build-up of a substance called homogentisic acid (HGA), which binds to cartilage and bone and turns tissues black, in a process called ochronosis. This causes severe early onset osteoarthritis. The nature of the disease leads to severe disability and long-term pain.
The AKU Scientific Conference will facilitate the sharing of knowledge about the condition among AKU world experts and aspiring scientists wishing to excel in AKU research in the future. It will focus on next steps in research following the recently ended DevelopAKUre clinical trials, a future gene therapy, an upcoming children’s study and a co-therapy for patients to take alongside the vital drug nitisinone – a drug which improves symptoms and signs of AKU. This conference will be key for pushing forward the next exciting stages of AKU research as we now have a successful drug that is on its way to be licensed, and we are looking to advance research to cure AKU.
Our conference will be the first steps towards the final stage of the AKU mission, to find a cure for this debilitating disease.

Applicants

Country

Kedar, Amir (Principal applicant)

The Israeli Wiskott Aldrich Syndrome Association

Israel

Thrasher, Adrian

Infection, Immunity and Inflammation, UCL Great Ormond Street Institute of Child Health, London

United Kingdom

Albert, Michael

Pediatric Hematology/Oncology, Dr. von Hauner University Children’s Hospital, LMU, Munich

Germany

Villa, Anna

Sr TIGET, IRCCS Ospedale San Raffaele, Milan

Italy

Abstract
The third international symposium for researchers and clinicians on Wiskott Aldrich Syndrome is being held in London UK and offers access to the latest research and analysis related to this rare disease. The participants will gain valuable insights into innovative perspectives in both basic and clinical research. The scientific programme will draw together experts from around the world to discuss breakthroughs in basic research, advances in clinical practice, novel therapeutic approaches and new insights into stem-cell and cellular therapies. This unique networking event is ideal forum to share knowledge, connect with colleagues and grow professional network. The goals of this meeting are:

  • Expanding WAS/XLT and WASp research.
  • Bridging the gap between basic and clinical research to speed up applications.
  • Foster collaboration among researchers.
  • Attract young researchers to focus on WAS/XLT and WASp.

Our three keynote lectures present the most recent knowledge in the research and clinical field of WAS. Prof. David Rawlings will talk about “Lessons learned regarding immune tolerance and progress towards new therapies for WAS”, Prof. Anna Villa will shed light on “Platelets defects in Wiskott-Aldrich Syndrome” and Prof. Michael Albert will discuss about “HSCT for WAS – What have we learned in 50 years and what promises does the future hold?”. As in our previous events, unpublished data regarding WAS and WASp research will be presented and discuss among participants. The data presented and the different topics discussed in this event are rarely accessible elsewhere

Applicants

Country

Scarpa, Maurizio ( (Principal applicant)

Regional Coordinating Centre for metabolic diseases, Azienda Sanitaria Universitaria Friuli, Udine

Italy

Jansen, Marleen

Netherlands National Institute for Public Health and the Environment (RIVM)

The Netherlands

Cornel, Martina

Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Center

The Netherlands

Tangeraas, Trine

Dept. of Paediatric and Adolescent Medicine, OUH Riskhospitalet

Norway

Kozich, Viktor

Dept of Paediatric and Adolescent Medicine, Charles University-1st Faculty of Medicine and General University Hospital, Prague

Czech Republic

 

Bonham, Jim

Clinical Chemistry, Sheffield Children’s NHS Foundation Trust

United Kingdom

Hedley, Victoria

John Walton Muscular Dystrophy Research Centre, Newcastle University

United Kingdom

Baumgartner, Matthias

Division of Metabolism, University Children’s Hospital Zurich – Eleonore Foundation

Switzerland

Abstract
There are big differences between European countries when it comes to newborn screening (NBS). Taking into consideration the overall needs and priorities regarding health conditions and system resources, there is room for a feasible improvement on NBS programmes in EU by means of a shared consensus document (roadmap). We consider it crucial to initiate a broad discussion involving the whole spectrum of stakeholders participating in debates about NBS such as representatives of scientific organisations, patient representatives, MetabERN and other stakeholders. We therefore organize two meetings in 2020 to drive this topic forward to deepen collaboration between stakeholders: a brainstorming session in April organized by MetabERN and a meeting under the EJP-NSS, which will integrate wider stakeholder perspectives to advance the topic of NBS. This meeting will be organised back-to-back with the conference of the International Society for Newborn Screening (ISNS). It will build upon past discussions and first steps from Member States under the EU Committee of Experts on Rare Diseases and reignite discussions on areas for potential European-level collaboration. The final result will be a consensus paper with steps toward identifying potential barriers and finding common grounds for NBS, involving pre-post born management, follow up of the affected child, family assistance and discuss technical discussion regarding criteria for the expansion of NBS . The outcome of this process will be a roadmap for policy-makers, the scientific community and advocacy organisations.

Round 2 (Collection date September 2020)

Applicants

Country

Petersen, Claus (Principal applicant)

Pediatric Surgery, Hannover Medical School

Germany

Davenport, Mark

Pediatric Surgery, Kings College Hospital, London

United Kingdom

Verkade, Hendrik Jan

Pediatric gastroenterology and hepatology and nutrition, The Beatrix Children’s Hospital of the University Medical  Center Groningen

The Netherlands

Socha, Piotr

Gastroenterology, Hepatology, Pediatrics and Nutritional Disorders, The Childrens’ Memorial Health Institute, Warsaw

Poland

Fischler, Björn

Pediatric hepatology, Karolinska University Hospital, Stockholm

Sweden

Dezsöfi, Anta

First Dept of Pediatrics, Semmelweis University, Budapest

Hungary

Wildhaber, Barbara

Pediatric surgery, University Hospitals of Geneva

Switzerland

Madadi-Sanjiani, Omid

Pediatric Surger, Hannover Medical School

Germany

Pakarinen, Mikko Petteri

Dept. Pediatric Surgery, Children’s Hospital, Helsinki University Hospital, University of Helsinki

Finland

Samyn, Marianne

Paediatric Liver, GI and Nutrition Centre, King’s College Hospital NHS Foundation Trust, London

United Kingdom

Abstract
The BARD-Bruges-2021 congress is the 2nd International and Interdisciplinary event about biliary atresia and related diseases. The core issues of the program are six controversial topics: neonatal cholestasis (diagnostic algorithm); biliary atresia (surgery/ adjuvant therapy/transition); cholangitis (definition/therapy); choledochal malformations (diagnostic algorithm, timing and technique ofsurgery, long-term follow-up) portal hypertension (diagnostics/shunting) and pediatric liver surgery (incl. liver transplantation). The faculty members have already built multidisciplinary pre-congress working groups in order to develop broad-based consensus. The aim is to formulate, using Delphic principles, six reliable algorithms and best procedure protocols before the meeting. During the meeting we will debate the proposals and achieve some sorely-needed consensus and expert-led guidelines, which will be submitted to relevant peer-reviewed journals. In Bruges, we desire synergisms with other ERN-rare-liver disease groups and will actively involve patients´ organisations. Additional topics are the role of screening programs (biliary atresia) and transition of adolescent patients into adult medicine.The meeting in Bruges is structured as a continuation of the BARD-Berlin-2014 congress. For further information click at www.bard-online.com.

Applicants

Country

Scheiner, Bernhard (Principal applicant)

Dept. Internal Medicine III, Division of  Gastroenterology and Hepatology, Medical University of Vienna

Austria

Rautou, Pierre-Emmanuel

Dept. Hepatology, Inserm – Université de Paris

France

Garcia-Pagan, Juan Carlos

Liver Unit, Hospital Clinic de Barcelona, University of Barcelona

Spain

Lisman, Johannes Antonius (Ton)

Surgical Research Laboratory, Department of Surgery, University Medical Center Groningen

The Netherlands

Procopet, Bogdan

3rd Medical Clinic, University of Medicine and Pharmacy „Iuliu Hatieganu” Cluj-Napoca

Romania

Abstract
The term “vascular liver diseases” comprises several rare diseases such as the idiopathic non-cirrhotic portal hypertension, the porto-sinusoidal vascular disease, the Budd-Chiari-Syndrome, the Rendu-Osler-Weber syndrome, the sinusoidal obstruction syndrome as well as splanchnic vein thromboses. According to a recent publication by the European Association for the Study of the Liver (EASL) one of these diseases affects around 1 in 10000 persons. Proper knowledge on the natural course of these diseases as well as adequate management are important as these entities often affect young and otherwise healthy individuals and may cause significant morbidity and mortality. However, diagnosis and treatment initiation are commonly delayed which also prompted the Vascular Liver Disease Group (VALDIG) of the EASL to define a new entity named “porto-sinusoidal vascular disease” in 2019 to facilitate diagnosis and stipulate research in this area. Unfortunately, patients with idiopathic non-cirrhotic portal hypertension / porto-sinusoidal vascular disease are still commonly misdiagnosed as having liver cirrhosis which may not only cause improper treatment but also stigmatization. One of the difficulties in diagnosis and treatment of these entities, is the need for a strong cooperation between different specialists such as hepatologists, pathologists as well as (interventional) radiologists. Therefore, the aim of this networking meeting is to improve knowledge on these diseases and to stipulate multidisciplinary, international research in order to improve the management of our patients.

Applicants

Country

Alberch, Jordi (Principal applicant)

Dept. Biomedical Sciences, University of Barcelona

Spain

Danek, Adrian

Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich

Germany

Sibon, Ody

Dept. Cell Biology, University of Groningen

The Netherlands

Hermann, Andreas,

Translational Neurodegeneration Section “Albrecht Kossel”, Dept Neurology, University Rostock

Germany

Zoladek, Teresa

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw

Poland

Miltenberger, Gabriel

Instituto de Medicina Molecular, University of Lisbon

Portugal

De Franceschi, Lucia

Dept. Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata

Italy

Irvine, Ginger

Advocacy for Neuroacanthocytosis Patients

United Kingdom

Velayos-Baeza, Antonio

Dept. Physiology, Anatomy and Genetics, The Wellcome Trust Centre for Human Genetics, University of Oxford

United Kingdom

Abstract
Neuroacanthocytosis syndromes (NA) are a group of rare, but devastating, neurodegenerative disorders, with Chorea Acanthocytosis as the “core” disease of this family. To date there are no treatments that can halt or slowdown the progression of these diseases. Since these are ultra-rare disease, there is very little or no support of industry and other public and private agencies is rare. Therefore, it is very important for these patients to have a strong NA community bringing together basic and clinical neuroscientists, neurologists and patients worldwide to address new discoveries in these diseases. This international community was successfully established 20 years ago. Thus, the aim of the 10th International Meeting on Neuroacanthocytosis Syndromes is to continue with this scientific / social platform that has been very useful to lead scientific approaches and the guidelines of patients’ healthcare for almost two decades. The setting of the meeting will encourage interactions, exchange of ideas and networking opportunities among all participants. PhD students and young researches will have the opportunity to present and discuss their work during the meeting. It is very relevant that patients, caregivers and patient’s associations are present in this meeting together with scientists and physicians. Thus, the meeting program schedules mixed sessions where the next steps and action points (scientific /social) are discussed to establish synergies in our quest to advance knowledge and practice. We must work all together to give some hope to the patients and their families.

Applicants

Country

Coppola, Antonietta (Principal applicant)

Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University of Naples

Italy

Depienne, Christel

Institut für Humangenetik, University Hospital Essen

Germany

Van Rootselaar, Anne-Fleur

Dept. Neurology, Amsterdam UMC/Academic Medical Center; University of Amsterdam

The Netherlands

Striano, Pasquale

Dept. of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genoa, G.Gaslini Institute

Italy

Licchetta, Laura

Dept. Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna

Italy

Van den Maagdenberg, Arn

Depts. Human Genetics & Neurology, Leiden University Medical Center

The Netherlands

Tijssen, Marina

Dept. Neurology, Expertise centre Movement Disorders Groningen, University of Groningen

The Netherlands

Brancati, Francesco

Dept. Life, Health and Environmental Sciences, University of l’Aquila

Italy

Baykan Betül

Depts. Neurology and Clinical Neurophysiology, Istanbul University Faculty of Medicine

Turkey

Canafoglia, Laura

Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan

Italy

Abstract
Familial Adult Myoclonic Epilepsy (FAME) is an autosomal dominant rare genetic condition, characterized by cortical tremor, myoclonus and generalized tonic-clonic seizures. FAME is considered a slowly progressive neurodegenerative condition.
Recently the genetic cause has been identified as a complex intronic pentameric expansion followed by a pentameric insertion affecting different genes: SAMD12 for families linked to chr8q24(FAME1), STARD7 for families linked to chr2p11.2-q11(FAME2), MARCHF6 for families linked to chr5p15.31-p15 (FAME3), YEATS2 for families linked to chr3q26q28(FAME4). Although the proteins encoded by these genes have different functions and subcellular localizations, the pathogenic mechanism might be the same. Indeed the production of the proteins is not affected suggesting that the expansion itself could produce toxic RNA species. The neurophysiological and neuropathological findings point out the cerebellum as a key brain structure of the dysfunctions. Indeed the cortical hyperexcitability could result from the decreased cortical inhibition by the cerebellum through cerebello-thalamocortical projections. At this moment there is neither a resolving nor preventive treatment for FAME. Clinical management is based on antiepileptic medications that control seizures while having a limited effect on the myoclonus. Notably, some antiepileptic drugs are contraindicated or even deleterious in this condition. Elucidating the pathogenesis of this condition would provide further insight into a possible precision medicine approach.

Applicants

Country

Del Álamo, Marta (Principal applicant)

Clinical Operations, European Clinical Research Infrastructure Network, Paris

France

Lingor, Paul

Dept. of Neurology, Klinikum rechts der Isar der TU München

Germany

Bührer, Christoph

 Klinik für Neonatologie, Charité – Universitätsmedizin Berlin

Germany

Griese, Matthias

Division of Pediatric Pneumology, University Hospital Munich, Dr. von Hauner Children´s Hospital

Germany

Sireau, Nick

AKU Society

United Kingdom

Hivert, Virginie

Eurordis-Rare Diseases Europe

France

Palladini, Giovanni

Biotechnology Research Laboratories, Foundation “Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia

Italy

Fischer, Dirk

Neuropediatrics, University Children’s Hospital Basel

Switzerland

Demlová, Regina

Dept. Pharmacology, Masaryk University, Brno

Czech Republic

Sangiorgi, Luca

Dept. Rare skeletal disorders, Istituto Ortopedico Rizzoli, Bologna

Italy

Abstract
Drug development in RD have many challenges, as the lack of clinical research experts and the scarcity of patients. Multinational clinical trials are required to achieve sufficient recruitment but international collaboration in clinical trials is constrained by scientific, ethical, economical and regulatory considerations. Different sponsors may have different capacities to address these constraints leading to different collaborative patterns. Academic-led clinical trials face a high number of specific challenges, including lack of funding, inadequate infrastructures to plan and execute the trials or structured processes to facilitate academic collaborations, that results in difficulties to access the right partner assisting on the operational management. Academic-sponsored trials often focus on refining indications of available treatments and to optimize therapeutic strategies that do not have as much financial gain to the pharmaceutical industry, thus having their own additional specific significance. In recognition of the importance of supporting academic clinical research despite its many challenges, this workshop will gather investigators involved in rare-diseases academic-sponsored trials on drug repurposing and other RD clinical research stakeholders (clinical research infrastructures, RD supporting programs representatives, patient organizations) to identify systematic problems/challenges in the set-up of academic-sponsored international clinical trials and promote initiatives aiming to fill up the gaps (guidelines, recommendations, inventories of existing tools).

Round 3 (Collection date December 2020)

Applicants

Country

Zschocke, Johannes (Principal applicant)

Institute for Human Genetics, Medical University Innsbruck

Austria

Kapferer-Seebacher, Ines

Dept. Operative and Restorative Dentistry, Medical University Innsbruck

Austria

Gaboriaud, Christine

Institute for Structural Biology, Interdisciplinary Research Institute of Grenoble

France

Van Dijk, Fleur

North West Thames Regional Genetics Service, London North West Healthcare NHS Trust

United Kingdom

Malfait, Fransiska

Center for Medical Genetics, Ghent University and Ghent University Hospital

Belgium

Abstract
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of connective tissue disorders. Apart from 3 common types (classical/vascular/hypermobile EDS) there are 10 rare types linked to 20 different disease genes. The pathogenesis of the rare EDS forms and the reasons for variable clinical presentations are only partly understood. Latest research suggests important links of the innate immune system with connective tissue homeostasis which is particularly relevant for the rare EDS types. This has also been the focus of an ANR-FWF funded Austrian-French joint project on the link between complement 1 and periodontal EDS. The planned networking event – planned as a hybrid meeting – will summarize current knowledge about the production, assembly and regulation of extracellular matrix components as well as their possible interaction with the immune system. Normal and abnormal cellular functions in the rare EDS types will be discussed also with regard to therapeutic options.
Aim is the strengthening and expansion of the rare EDS clinical and basic research networks with identification of the most pertinent research questions. The meeting combines state-of-the art research and overview presentations with reports from clinical cohort studies. It is linked to a patient-oriented virtual meeting in which the current knowledge on all rare EDS types is presented to an international audience including patients and non-specialist clinicians. This will be broadcast live with translation in 4 languages with support of the EDS Society, an international patient advocacy organization.

Applicants

Country

Viti, Federica (Principal applicant)

Institute of Biophysics, National Research Council, Genova

Italy

Ceccherini, Isabella

Lab. Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini, Genova

Italy

Vassalli, Massimo

James Watt School of Engineering, University of Glasgow

United Kingdom

Thapar Nikhil

Dept. Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, London

United Kingdom

Molnar, Maria Judit

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest

Hungary

Palmitelli, Alessandro

Associazione Poic e dintorni Onlus

Italy

Alves, Maria

Dept. Clinical Genetics, Erasmus University Medical Center

The Netherlands

Abstract
Visceral Myopathy (VSCM), a myogenic form of chronic intestinal pseudo-obstruction, is a rare severe genetic disease showing variable neonatal dysfunction in bladder and gut motility. It often provides an overall devastating clinical picture. The true incidence of VM remains largely unknown due to difficulties in diagnosis. Nevertheless, available data suggest that VM is very rare, showing an incidence of possibly <1 in 100,000. VSCM lacks effective strategies to diagnose, characterise and manage.
The creation of an International and multidisciplinary taskforce between clinicians, researchers and Patient Advocacy Organizations representatives is necessary to address major VSCM needs. A kick-off event is crucial to support the establishment of a long-lasting European initiative to focus on the many challenges posed by VSCM. The event will focus on state of the art, emerging approaches and futuristic visions related to VSCM, with special interest for: clinical diagnosis and patient management; genetics and onset molecular mechanisms; advanced models and methods to address VSCM diagnosis and therapy; therapeutic approaches and potential candidates for drug treatments; research-support framework. Expected outcomes of the event regard: 1. a clear assessment of the state of the art on VSCM; 2. the identification of the most pressing needs in the context of disease management; 3. the creation of scientific taskforces to address outstanding topics in research and clinic; 4. the coordination of European data and material sharing initiatives; 5. a future common fund-raising strategy.

Applicants

Country

Aibar Moreno, José Angel (Principal applicant)

Dravet Syndrome Foundation Spain

Spain

Cardenal Munoz, Elena

Dravet Syndrome Foundation Spain

Spain

Broccoli, Vania

Division of Neuroscience, San Raffaele Scientific Institute – CNR Neuroscience Institute, Milan

Italy

Rubinstein, Moran

Goldschleger Eye Research Institute. The Department of Fluman Molecular Genetics and Biochemistry, Tel Aviv University

Israel

Lignani, Gabriele

Dept. Clinical and Experimental Epilepsy, UCL, Queen Square Institute of Neurology, London

United Kingdom

Elernandez-Alcoceba, Ruben

CIMA, Gene Therapy Program, University of Navarra

Spain

Mantegazza, Massimo,

Institute of Molecular and Cellular Pharmacology, CNRS and University Cote d’Azur, Valbonne

France

Karda, Rajvinder

Institute for Women’s Health, University College London

United Kingdom

Hernando Llorente, Rodrigo

Dravet Syndrome Foundation Spain

United Kingdom

Abstract
Dravet syndrome (DS) is a rare disease whose symptoms start in the first year of life, with seizures triggered by fever followed by a drug-resistant epilepsy. It also causes severe cognitive, motor and speech delays, as well as behavioural problems. Due to the genetic nature of the disease, advanced therapies (AT) such as those based in gene or protein modification represent new hope in the search for an effective treatment for this pathology.
Dravet Syndrome Foundation Spain (FSD) and the Dravet Syndrome Advanced Therapies European Working Group (DS ATEWG), formed by top scientists in the field of AT for DS and related encephalopathies, organize the European Dravet Syndrome Advanced Therapies Meeting 2021 (EDSAT 2021), a 1-day satellite meeting to the Dravet Syndrome Conference 2021. This international networking event, held in Madrid (ES) on September 24, 2021, provides an excellent opportunity to meet friends and colleagues, foster new relationships and collaborations, and develop strategies for efficient and productive scientific outcomes.
Scientists will share first-hand information about their most recent advances in AT and DS research. In addition, attendees will learn from and discuss with guest industry regulatory and clinical experts in product and clinical development. Overall, EDSAT 2021 is an ideal platform for exchange, where students, early career scientists, leading investigators, policy makers, pharmaceutical industry and other sectors in healthcare converge and collaborate for the common goal of promoting DS research and patient access to AT.

Applicants

Country

Titulaer, Maarten Jan (Principal applicant)

Dept Neurology, Erasmus University Medical Center

The Netherlands

Massacesi, Luca

Dept Neurosciences Drugs and Child Health, Florence University

Italy

Gastaldi, Matteo

Neuroimmunology laboratory/Neuroncology and Neuroinflammation Unit, IRCCS Mondino Foundation, Pavia

Italy

Easton, Ava

The Encephalitis Society

United Kingdom

Graus, Francesc

Dept. Neuroimmunology, Institut Recerca Biomèdica August Pi i Sunyer, Barcelona

Spain

Erdag, Ece,

Dept. Neuroscience, Aziz Sancar Institute of Experimental Medicine, Istanbul

Turkey

Dalmau, Josep

Dept. Neuroimmunology, Institut Recerca Biomèdica August Pi i Sunyer, Barcelona

Spain

Honnorat, Jerome

Dept. Neuro-oncology, University Claude Bernard, Lyon

France

Leypoldt, Frank

Dept. Neurology and Inst. of Laboratory Medicine, University Hospital-Schleswig-Holstein & Kiel University

Germany

Tanasescu, Radu

Dept. Neurology, Nottingham University Hospitals, University of Nottingham

United Kingdom

Abstract
Autoimmune Encephalitis (AIE) are a group of severe, but treatable immune-mediated diseases of the brain. Although the frequency of each specific AIE is low, as a group these are less rare. As many types are only discovered over the last decade, it is increasingly recognized, but underdiagnosis is still likely. As AIE occur at all ages, admission is often long and consequences can be severe, it poses a high burden on the health care system. Recent diagnostic criteria for AIE have been proposed by an international, European-led team. This has improved clinical characterization and allowed earlier diagnosis and treatment. Early treatment is curative improving outcome, and preventing relapses. Due to the rarity of the separate AIE entities, randomized clinical trials are lacking. Expert opinion is based on case series. A task force (TF) of experts, endorsed by the European Academy of Neurology, is to create consensus on management of AIE. In extension to this guideline, the TF identified knowledge gaps.
In this conference, the TF is to be expanded to create a European network: TREAT AIE. Aims are standardization of data, sharing of databases, creating an European framework database, leading to fruitful research collaborations. This will lead to uniformity of cohort descriptions, enabling comparative research. Prospectively, this will enable randomized controlled trials. Altogether, this will improve diagnosis and treatment of patients with AIE in the whole of Europe. It will also reinforce European research at the front line in the field of rare neuroimmunological diseases.