Jornadas Científicas y Familiares 2023
Scientific and Family Days 2023
Dravet Syndrome Conference 2023
When and where: 23rd of March 2023 in Madrid
Dravet Syndrome Foundation Spain organises a new edition of the Dravet Syndrome Conference, which will take place on Thursday 23rd of March 2023 in Madrid, Spain.
After the great success of the 2022 edition, we are proud to re-engage this meeting in person, open to all clinicians, researchers, and professionals from the pharmaceutical industry from all over the world, with the common interest of fighting epilepsy.
During the conference, presentations will include the latest advances and updates in the management and treatment of Dravet syndrome, including both new available drugs and treatments in development. This event will represent a unique opportunity to get up to date on Dravet syndrome management, as well as to discuss and exchange ideas in the most collaborative, relaxed and fruitful way possible with international experts.
Therefore, the organising committee encourage all stakeholders working in the health and R&D medicine sector to join this conference: policy makers, academics and researchers, pharmaceutical industry and other sectors in healthcare, SMEs and mid-sized enterprises, patient representatives, regulators, representatives of other public-private partnerships and research-funding organisations.
The Dravet Syndrome Conference 2023 will take place at the Official College of Nursing of Madrid, Spain, located in the former factory of the American sewing machine company Singer, an emblematic building of the 20th century.
Breaks and lunch will take place in the Nursing History Museum of the Official College of Nursing in Madrid, which is the only nursing museum in all of Spain, receiving visitors from all over the world.
Registration will be free of charge, but mandatory for organizational reasons.
With the support of:
Official College of Nursing of Madrid
European Academy of Neurology
With the scientific endorsement of:
European Reference Network EpiCARE
European Paediatric Neurology Society
European Academy of Neurology
Agenda
08.30 – 09.00
Welcome & Registration
09.00 – 09.15
Opening statements & Introduction to the program
Charlotte Dravet
Raquel Yotti, Secretary-General for Research, Ministry of Science and Innovation of Spain
Jorge Andrada, President, Official College of Nursing of Madrid
Lieven Lagae, Scientific Committee, Dravet Syndrome Foundation Spain
José Ángel Aibar, President, Dravet Syndrome Foundation Spain
09.15 – 09.45
Dravet syndrome perspectives
Chair: Charlotte Dravet
Dravet syndrome by a parent
Lauraine Mckenna, Patrick’s mom
Dravet syndrome: From one century to another!
Charlotte Dravet
09.45 – 11.15
Coexisting comorbidities in Dravet syndrome
Chair: Lieven Lagae, KU Leuven
Early diagnosis and intervention and its long-term impact on comorbidities
Andreas Brunklaus, Royal Hospital for Children, Glasgow
Cognition in Dravet syndrome
Lieven Lagae, KU Leuven
Neuropsychiatric disorders in Dravet syndrome
Susana Boronat, Hospital Sant Pau Barcelona
SUDEP in Dravet syndrome. Can it be mitigated?
Franck Kalume, University of Washington
Defining therapeutic success in Dravet syndrome
Ángel Aledo-Serrano, Hospital Vithas Madrid La Milagrosa
11.15 – 11.45
Networking Coffee Break & Poster Session
11.45 – 13.00
Dravet syndrome in adults
Chair: Danielle Andrade, University of Toronto
The Dravet syndrome patient journey: The Spanish journey
Estibaliz Barredo, University Hospital Gregorio Marañón
Comorbidities in adults with Dravet syndrome
Vicente Villanueva, Hospital La Fe
Transition taking comorbidities into account
Danielle Andrade, University of Toronto
Undiagnosed adults with Dravet syndrome. What can be done?
Sarah Weckhuysen, University of Antwerp
13.00 – 14.30
Networking Lunch & Poster Session
14.30 – 15.30
What’s coming next in Dravet syndrome? 1/2
Chair: Rajvinder Karda, EGA Institute for Women’s Health at UCL
Update on the research pipeline for Dravet syndrome
Vittoria Spinosa, Dravet Syndrome Foundation Spain
The open access Dravet syndrome research kit
Verónica Rivero Hernández, Dravet Syndrome Foundation Spain
A high-throughput method for screening for new drugs for the treatment of genetic epilepsies
Lorianne Masuoka, Epygenix Therapeutics
Clinical update on soticlestat (TAK-935) for the treatment of Dravet syndrome
Vicente Villanueva, Hospital La Fe
15.30 – 16.00
Networking Break & Poster Session
16.00 – 16.45
What’s coming next in Dravet syndrome? 2/2
Chair: Verónica Rivero Hernández, Institute for Research, Development and Innovation in Health Biotechnology of Elche (IDiBE, UMH)
Advanced therapies approaches for Dravet syndrome
Rubén Hernández, CIMA Universidad de Navarra
Preclinical development of RT101, a novel approach for normalizing SCN1A expression levels
Jordane Dimidschstein, Regel Therapeutics
16.45 – 17.00
The power of patient groups in drug development
Vittoria Spinosa, Dravet Syndrome Foundation Spain
17.00
Close & thank-yous
José Ángel Aibar, Dravet Syndrome Foundation Spain
With the scientific endorsement of:
European Reference Network EpiCARE
European Paediatric Neurology Society
European Academy of Neurology
Charlotte Dravet
Marseille
France
BIOGRAPHY
Charlotte Dravet was born in Marseille, on Bastille Day, July 14, 1936. Even after her retirement in 2000, she has kept close ties with her extended family, being intensively active, with a large, worldwide web of colleagues and friends.
After she completed medical studies at the University of Marseille, her initial interest was in paediatrics, but she subsequently received a diploma in psychiatry in 1971, although her actual activities were devoted exclusively to epilepsy, primarily in children.
She was recruited in 1965 by Henri Gastaut to serve as the resident physician at the Centre Saint Paul and wrote her medical thesis the same year on the basis of the medical case histories of young patients with intellectual disability, severe epilepsy, and slow spike-wave EEG complexes, a triad already described by William Lennox as the Petit Mal variant. However, the original and useful part of her work was based on her own observations of the characteristic tonic seizures of sleep. It was this work, later published in EPILEPSIA, that led to the definition of the “epileptic encephalopathy with slow spike-waves,” or the Lennox-Gastaut syndrome (LGS).
Together with Michelle Bureau, she applied her thorough methodology to the study of children with myoclonias as there was little understanding of the matter in the 1960s and 1970s.
The simultaneous description of Benign Myoclonic Epilepsy and of Severe Myoclonic Epilepsy in Infancy (SMEI) were first published in a French journal for general practitioners. Both syndromes were widely recognized and accepted, and it took nearly 20 years for their initial descriptions to be refined. SMEI became “Dravet syndrome” as it appeared, over the years, that myoclonias were not the major discriminating symptom. This condition was associated with a significant sodium channel mutation, a finding that occurred in 2000, at the beginning of the molecular genetic era of epileptology.
She was the co-organizer of several meetings, teaching courses and seminars on epilepsy, and a guest speaker in many countries. She co-authored several books and many chapters on epilepsy, mainly the well-known “Epileptic syndromes in infancy, childhood and adolescence” (7th ed. 2019), and “Dravet syndrome” with Renzo Guerrini (2011) (2nd ed. 2023). She received the Ambassador award of the International League Against Epilepsy in 1989, the European Epilepsy award in 2004, the Lifetime Achievement award of the ILAE, and the International Bureau for Epilepsy in 2017. She was president of the French Chapter of the ILAE (1997-99) and promoted its social actions on behalf of PWE and the first National Epilepsy Day. She was awarded the Légion d’Honneur in 2011.
Her professional life was spent at the Centre Saint Paul (later renamed the “Hôpital Henri Gastaut”). She lived inside the institution, later acquiring a nice villa in the hills of Marseille, where she has kept her door open to many friends, relatives, and patients. After she retired in France, she worked predominantly in Pisa and Rome, and she has focused on the long-term development of children with epileptic encephalopathies and with Dravet syndrome. She still collaborates with many patients, family, and advocacy organizations worldwide, especially with those devoted to Dravet syndrome. She enjoys lifelong friendly, trusting relationships with her patients, their caregivers, her colleagues, and the general public.
Adapted from a text written by Pierre Genton and Michelle Bureau in the book Child Neurology: Its Origins, Founders, Growth and Evolution.
Laurianne Mckenna
Dravet Syndrome Foundation Spain
BIOGRAPHY
Lauraine has a degree in Pharmacy from the University of Granada and a postgraduate degree in Pharmacovigilance, as well as a Masters in Clinical Trials from the University of Seville. She has worked for a decade in Community Pharmacy in Spain and also for a period of time in the UK where her family is from, although she has been based in Spain since she was a child.
After completing her Master’s degree in Clinical Trials, she is dedicated to the world of research, working since 2017 as trials coordinator and data manager at the Hospital Costa del Sol in Marbella, with experience in HIV and Oncology clinical trials. Previously she worked for a few months at the Virgen de la Macarena Hospital in Seville in the Endocrinology Clinical Management Unit.
When her first child was diagnosed with Dravet syndrome in early 2021, she contacted our Foundation in search of support. As a member of the Board of Trustees of the Dravet Syndrome Foundation, she hopes to be able to contribute everything in her power so that one day in the not too distant future there will be a world without this disease that makes her family suffer so much.
Andreas Brunklaus
Royal Hospital for Children, Glasgow
United Kingdom
BIOGRAPHY
Professor Andreas Brunklaus is a consultant paediatric neurologist at the Royal Hospital for Children, Glasgow and honorary professor at the College of Medical, Veterinary and Life Sciences, University of Glasgow. He trained at the Charité Medical School, Humboldt University Berlin, Germany and completed his child neurology training at Great Ormond Street Hospital in London and the Royal Hospital for Children in Glasgow. He obtained his MD from the University of Glasgow and has an ongoing research interest in epilepsy genetics, in particular sodium channel disorders. He is an international expert in SCN1A-related epilepsies and Dravet syndrome and is the author of several key publications. He leads international research collaborations developing cutting edge diagnostic tools in epilepsy genetics and is the UK chief investigator for “SCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United Kingdom”. He is lead of the Scottish Paediatric Epilepsy Network, has numerous national and international advisory board positions, is co-chair of the International League Against Epilepsy (ILAE) Task Force on Clinical Genetic Testing and editorial board member of the European Journal of Paediatric Neurology.
Lieven Lagae
KU Leuven
Belgium
BIOGRAPHY
Lieven Lagae is Full Professor and Head of Paediatric Neurology Department at the University Hospitals of Leuven, Belgium. He has a particular clinical and scientific interest in childhood epilepsy and is involved in many research projects including zebrafish epilepsy models, brain stimulation, preventive treatment in TSC, the use of fenfluramine and analogues in Dravet and refractory epilepsy syndromes.
Lieven Lagae is the past President of the European Paediatric Neurology Society (EPNS) and he is one of the Directors of the European Brain Foundation and Member of the Steering Committee of EpiCARE, the European Reference Network for rare and complex epilepsies. He serves at several scientific journal editorial boards and pharma company advisory boards.
He received the ‘Cures within Reach Patient Impact Clinical Award’ in 2017, the 2019 Honorary Award of German speaking Paediatric Neurology Society and the 2019 Aicardi Award of the EPNS.
Susana Boronat
Hospital Sant Pau de Barcelona
Spain
BIOGRAPHY
Dr Susana Boronat MD, PhD, trained as a child neurologist at Vall d’Hebron Hospital, where she did most of her clinical work in Neuropaediatrics, specialising in genetically based disorders, and later worked as a Clinical Geneticist in the Genetics service of the same hospital.
For 2 years she did clinical research at the Boston Hospital of the Massachusetts General Hospital, in the Childhood Epilepsy and Tuberous Sclerosis centre directed by Dr Elisabeth Thiele. She completed her training in neurogenetics and dysmorphology at Harvard University.
Since 2018 she is the director of Paediatrics at the Hospital de la Santa Creu i Sant Pau, in Barcelona.
Franck Kalume
Universirty of Washington
United States
SESSION TITLE: SUDEP in Dravet syndrome. Can it be mitigated?
BIOGRAPHY
Franck Kalume, Ph.D. is an Associate Professor in the Departments of Neurological Surgery, Pharmacology, and Global Health at the University of Washington. He is also a Principal Investigator at Seattle Children’s Research Institute. His research interests are focused on: (1) Understanding the pathophysiological mechanisms of seizures and comorbid conditions in genetic refractory epilepsies. (2) Using the knowledge obtained to develop novel mechanism-based therapeutic approaches for these epilepsies. His current projects are centred on using genetic mouse models to elucidate the cellular and network mechanisms of epilepsy, sleep disturbance, and sudden unexpected death in three debilitating and life-threatening forms of epileptic disorders with distinct genetic aetiology, namely the SCN1A-related Dravet syndrome, PIK3CA-related focal cortical dysplasia, and NDUFS4-related Leigh syndrome. Moreover, Dr Kalume’s work is focused on developing novel gene therapy approaches for Dravet syndrome.
Ángel Aledo-Serrano
Hospital Vithas Madrid La Milagrosa
Spain
BIOGRAPHY
Ángel Aledo-Serrano MD, PhD is a neurologist and epileptologist, director of the Vithas Madrid Neuroscience Institute. His main focus of clinical and research work is in the area of neurogenetics, precision medicine and developmental and epileptic encephalopathies, including Dravet syndrome and other sodium channelopathies, MOGHE, CDKL5 deficiency disorder or SYNGAP1 encephalopathy, among others. He is very active in the social and educational aspects of DEEs, with a science dissemination platform in social media (@AledoNeuro).
Estíbaliz Barredo
Hospital General Universitario Gregorio Marañón
Spain
BIOGRAPHY
Dr. Estíbaliz Barredo is a specialist in Child Neurology, endorsed by the Spanish Society of Child Neurology and accredited by the Spanish Association of Paediatrics.
She has been working since 2011 at the Hospital General Universitario Gregorio Marañón in Madrid, where she has specialised in the management of children with severe neurological pathology, her main lines of work being the aetiological diagnosis in children with autism spectrum disorder, epileptic encephalopathies and neurological comorbidity in patients with sickle cell disease, among others. She is also part of the group 3 of the Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), dedicated to the study and research of neurological diseases.
Vicente Villanueva
Hospital La Fe
Spain
BIOGRAPHY
Dr Vicente Villanueva is a neurologist at the Neurology Service in Hospital La Fe, Valencia, where he became a staff member since 2004. Since 2005 he has also worked at the Multidisciplinary Epilepsy Unit at Hospital La Fe, where he is Head of the Refractory Epilepsy Unit and Epilepsy Surgery Programme. He serves as representative of the European Reference Network Epi-CARE and is a member of the ILAE Intellectual Disability Task Force. He is an associate Professor of Neurology at the University of Valencia, since 2017.
Dr Villanueva undertook his training at the Fundación Jiménez Diaz, Madrid, Spain, the Epilepsy Center of the University of Alabama, Birmingham, AL, USA, the Epilepsy Center of New York University, New York, USA and Hôpital Saint-Vincent de Paul, Paris, France. He received his PhD in the evaluation of video electroencephalography (EEG) in refractory epilepsy and is certified in epileptology by the European Epilepsy Academy. His current research interests include refractory epilepsy, video-EEG monitoring, epilepsy clinical trials, and epilepsy surgery.
Dr Villanueva is a member of the EEG board and the Epilepsy Guidelines Board of the Spanish Neurological Society. He is a reviewer for Neurology, Epilepsia, Epilepsy and Behaviour, Epilepsy Research, Acta Neurologica Scandinavica, European Journal of Paediatric Neurology. In the last years, Dr Villanueva has directed nine epilepsy courses, authored more than 120 papers on epilepsy and has served as editor of three books on epilepsy. Dr Villanueva was awarded in 2014 with the Scientific Prize in epilepsy by the Spanish Society of Neurology.
Danielle Andrade
Universirty of Toronto
Canada
BIOGRAPHY
Dr Andrade is a Professor of Medicine (Neurology) at University of Toronto and the Medical Director of the Epilepsy Program of University Health Network, University of Toronto. She is also the Director of the Adult Genetic Epilepsy (AGE) Program at University of Toronto, a pioneer program established to promote care and research in adult genetic epilepsies. She is also the former Chair and now Co-Chair of the ILAE Task Force on Child to Adulthood Transition.
Dr Andrade’s research interests are the field of transition of care from paediatric to adult and on the area of genetic epilepsies and their natural histories. Dr Andrade and her team have identified and characterized several epilepsies and comorbidities in adults with genetic epilepsies, including Dravet syndrome. She has also identified the first gene associated with SUDEP (sudden, unexpected death in epilepsy) in patients with non-syndromic epilepsy. Her team has also discovered genes responsible for Lennox-Gastaut syndrome, Jeavon’s syndrome, teenage-onset neuronal ceroid lipofuccinosis progressive myoclonus epilepsy, among others.
Sarah Weckhuysen
Universirty of Antwerp
Belgium
BIOGRAPHY
Sarah Weckhuysen is an Associate Professor at the University of Antwerp in Belgium with interest in both clinical epilepsy and genetic research. As a neurologist, she worked in several tertiary epilepsy centres, including the Epilepsy Center Kempenhaeghe in the Netherlands, the Hôpital Pitié Salpêtrière in Paris, France, and currently the University Hospital of Antwerp in Belgium. She obtained a PhD on the topic of genetics of epileptic encephalopathies under the mentorship of Prof. P. De Jonghe, who discovered de novo SCN1A mutations as the genetic cause of Dravet Syndrome back in 2001. Since 2018 Sarah is heading the epilepsy research team of the Applied & Translational Neurogenomics group at the VIB-Center for Molecular Neurology in Antwerp. The primary focus of her research group is the identification of novel genes and genetic mechanisms implicated in epilepsy, using state-of-the-art multi-omics approaches. The developmental and epileptic encephalopathies are of specific interest to her group, as she strongly believes that the study of the underlying genetic mechanisms can be the entry point for the development of more potent, targeted therapies. Her lab therefore also uses patient derived induced pluripotent stem cells as a tool to translate the genetic work of her group into biological understanding and better treatments for people with epilepsy. Over the years, her work contributed to many novel epilepsy gene discoveries and disease characterisations.
Rajvinder Karda
EGA Institute for Women’s Health at UCL
United Kingdom
BIOGRAPHY
Dr Rajvinder Karda is a Lecturer in Gene Therapy at the Institute for Women’s Health, UCL. She completed her PhD in Gene Transfer and Neuroscience at Imperial College London in 2016. Her research team mainly focuses on developing pre-clinical gene therapy and RNA editing treatments for childhood epilepsies. She also collaborates on pre-clinical gene therapy projects for rare childhood metabolic disorders. She is currently a board member of the British Gene and Cell Therapy Society and chairs the Public and Patient Engagement series. She is also a member of the Scientific Advisory Committee for the Dravet Syndrome Foundation Spain.
Verónica Rivero
Institute for Research, Development and Innovation in Health Biotechnology of Elche (IDiBE, UMH)
Spain
BIOGRAPHY
Degree in Biochemistry, Master in Bioengineering (Specialty in Applied Toxicology and Pharmacology) and PhD in Molecular and Cellular Biology from the University Miguel Hernández (UMH). Her dedication has always been focused on applied and translational research and the discovery of active molecules.
She started with toxicology research in endocrine disruptors with a stay at the Karolinska Institutet in Stockholm. Subsequently, she worked as a researcher in R&D projects at the Institute of Molecular and Cell Biology (IBMC) of the UMH, in toxicological and pharmacogenomic high-throughput screening for the development of new active compounds in the dermo-cosmetic and dermopharmaceutical field.
She obtained her PhD in Molecular and Cellular Biology from UMH-UB in 2017 with the thesis project “Pharmacological screening for Dravet Syndrome” funded by the Dravet Syndrome Foundation (Spain Delegation). His work consisted in the implementation of a new automated electrophysiology technique for high-throughput screening of compound libraries and drug discovery. The main objectives were the search for Nav1.1wt sodium channel activating and/or Nav1.6wt inhibitory molecules.
She continued her postdoctoral stage in Sensory Neurobiology, first as project manager in the spin-off Antalgenics S.L (PCUMH), in the search for neuropeptides to modulate itch, inflammation and pain pathways in skin pathologies.
She is currently working at the Institute for Research, Development and Innovation in Health Biotechnology of Elche (IDiBE, UMH) in the Sensory Neurobiology group, led by Professor Antonio Ferrer Montiel, in the generation of a prototype, through tissue engineering and 3D bioprinting, of a preclinical in vitro model of skin innervated by human sensory neurons.
Lorianne Masuoka
Epygenix Therapeutics
United States
BIOGRAPHY
Dr Masuoka has more than 25 years of experience building and expanding high value pipelines in the biopharmaceutical industry that have resulted in drug approvals and strategic alliances.
She is a board-certified neurologist who has successfully created and overseen high performing teams to lead the clinical development of new medicines, with a focus in multiple sclerosis, oncology, and epilepsy. Dr Masuoka served as Chief Medical Officer of Marinus Pharmaceuticals, Cubist Pharmaceuticals (now Merck), and Nektar Therapeutics where, as a member of executive management, she managed teams in the areas of clinical research, pharmacovigilance, biostatistics and data management, regulatory affairs, and clinical operations. Previously, she held various roles of increasing responsibility at FivePrime Therapeutics (now Amgen) and Chiron (now Novartis). In addition to her executive roles, Dr Masuoka most recently served as a Board member at Pfenex Inc. (now Ligand) and serves as a Board member at Opiant Pharmaceuticals.
Dr Masuoka received her medical degree from the University of California, Davis, where she also completed her residency in neurology. She completed her epilepsy fellowship at Yale University and is board certified by the American Board of Psychiatry and Neurology.
Rubén Hernández
CIMA Universidad de Navarra
BIOGRAPHY
Ruben Hernandez-Alcoceba graduated in Medicine (1994) and obtained his PhD (1998) in Spain. His post-doctoral training was in the field of oncolytic adenoviruses in the Cancer Center of the University of Michigan (Ann Arbor, MI, USA, 1998-2002). In 2003 he obtained a researcher position in the Gene Therapy Program at the Center for Applied Medical Research (University of Navarra, Pamplona, Spain). Since then he has designed and evaluated adenoviral vectors for cancer immunotherapy. More recently he focuses on adenoviral and AAV vectors for the treatment of genetic diseases such as Wilson´s disease, cerebrotendinous xanthomatosis and Dravet syndrome.
Jordane Dimidschstein
Regel Therapeutics
United States
BIOGRAPHY
Jordane Dimidschstein is a molecular biologist and a neuroscientist specialized in genomics with over 15 years of research experience. Previously, Jordane was a Group Leader at the Broad Institute of MIT and Harvard where he developed novel approaches to de-risk the use of gene therapy vectors. His research focused on improving the safety and efficacy of viral vectors by restricting their action exclusively to the cells affected by disease. Jordane received his Ph.D in Molecular & Cellular Neuroscience from the University of Brussels and completed his postdoctoral training in the laboratory of Dr. Fishell at the NYU School of Medicine and Harvard Medical School.
With the scientific endorsement of:
European Reference Network EpiCARE
European Paediatric Neurology Society
European Academy of Neurology
Venue
The Dravet Syndrome Conference 2023 will take place at the Official College of Nursing of Madrid (Spain), located in the former factory of the American sewing machine company Singer, an emblematic building of the 20th century. The venue is located at Avenida de Menéndez Pelayo, 93, in the heart of the city and less than 10-minute walk away from Paseo del Prado and Atocha station.
Breaks and lunch will take place in the Nursing History Museum of the Official College of Nursing in Madrid, which is the only nursing museum in all of Spain, receiving visitors from all over the world.
With the scientific endorsement of:
European Reference Network EpiCARE
European Paediatric Neurology Society
European Academy of Neurology
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Contact us at [email protected] and find out our various sponsoring options!
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With the support of:
Official College of Nursing of Madrid
European Academy of Neurology
With the scientific endorsement of:
European Reference Network EpiCARE
European Paediatric Neurology Society
European Academy of Neurology
Registration
Attendance to this conference is free of charge, but mandatory for organisational reasons. You just need to fill in the fields below to register for the Dravet Syndrome Conference 2023, that shall take place on the 23rd of March 2023 in Madrid. At no cost, the registration includes coffee and beverages, lunch, attendance to all sessions and the conference materials.
For more information on this event, visit the Home page.
With the scientific endorsement of:
European Reference Network EpiCARE
European Paediatric Neurology Society
European Academy of Neurology
European DS Advanced Therapies Meeting
When and where: 24th of March 2023 in Madrid
After the success of the first edition, Dravet Syndrome Foundation Spain and the European Dravet Syndrome Advanced Therapies Working Group (EDSAT) are delight to organise the second edition of the European Dravet Syndrome Advanced Therapies (EDSAT) Meeting, a 1-day networking event satellite to the Dravet Syndrome Conference 2023.
This international meeting will take place in person on Friday 24th of March 2023 in Madrid, Spain. The EDSAT Meeting will provide the latest updates on the Advanced Therapies in Medicinal Products (ATMPs) for Dravet syndrome. In addition, attendees will have the unique opportunity to exchange ideas and foster collaborations with key scientists and guest industry, clinical and regulatory experts in product and clinical development.
The registration is free of charge, but mandatory for organisational reasons. Registration also includes free access to the networking dinner, in the evening of 23rd of March, 2023. However, to maximise networking opportunities, this event is limited to 50 attendees, who will be processed on a first-come, first-served basis. To encourage participation of usually underrepresented countries in Europe, travel grants will be offered to students and postdocs coming from those countries. The EDSAT Meeting will be open to students, early career scientists, leading investigators, policy makers and other professionals from the pharmaceutical and healthcare sector with the common goal of promoting Dravet syndrome research and patient access to ATMPs.
The EDSAT Meeting 2023 will take place at the Official College of Nursing of Madrid (Spain), located in the former factory of the American sewing machine company Singer, an emblematic building of the 20th century.
Breaks and lunch will take place in the Nursing History Museum of the Official College of Nursing in Madrid, which is the only nursing museum in all of Spain, receiving visitors from all over the world.
As alraedy mentionted, registration will be free of charge, but mandatory for organizational reasons.
Agenda
08.30 – 09.00
Welcome & Registration
09.00 – 09.10
Opening statements & Introduction to the program
Chair: José Ángel Aibar, Fundación Síndrome de Dravet
09.10 – 09.55
Research Talk Session I
Targeting GABA-switch can rescue behavioral defects but not seizures in Scn1a+/- DS mice
Massimo Mantegazza, Côte d’Azur University & CNRS
Validation of θ-γ PAC as potential EEG biomarker to assess efficacy of the anti-seizure treatment
Else Tolner, Leiden University Medical Center
Boosting a homeostatic response as therapeutic approach in Scn1a+/- Dravet syndrome mice
Evgeniia Rusina, Institute of Molecular and Cellular Pharmacology, CNRS
09.55 – 10.40
Workshop 1: Existing ASMs for Dravet syndrome and related epilepsies
Introduction to existing ASMs for Dravet syndrome and related epilepsies
Heidrun Potschka, Ludwig-Maximilians-University Munich
Dynamic group discussions on existing ASMs for Dravet syndrome and related epilepsies
All attendees
10.40 – 11.10
Poster Session & Networking Coffee Break
11.00 – 11.30
Research Talk Session II
Strategies to reduce inflammation of adenoviral vectors in a Dravet syndrome mouse model
Rubén Hernández, CIMA Universidad de Navarra
Constitutive restoration of Nav1.1 levels in GABAergic neurons ameliorates Dravet syndrome phenotype
Martina Mainardi, San Raffaele Scientific Institute
11.30 – 12.30
Workshop 2: Pros and cons of the different advanced therapy strategies for Dravet syndrome
Introduction to the pros and cons of the different advanced therapy strategies for Dravet syndrome
Gabriele Lignani, UCL Queen Square Institute of Neurology
Rubén Hernández, CIMA Universidad de Navarra
Dynamic group discussions on the pros and cons of the different advanced therapy strategies for Dravet syndrome
All attendees
12.30 – 14.00
Poster Session & Networking Lunch
14.00 – 14.45
Expert Panel: New insights into the neuropathophysiology of Dravet Syndrome
Chair: Massimo Mantegazza, Côte d’Azur University & CNRS
Initial pathological mechanism and remodeling (secondary modifications)
Massimo Mantegazza, Côte d’Azur University & CNRS
Secondary modifications studied with proteomics and metabolomics
Heidrun Potschka, Ludwig-Maximilians-University Munich
Can upregulation of Nav1.1 overcome secondary modifications?
Gaia Colasante, San Raffaele Scientific Institute
Open discussion on the topic
Sarah Weckhuysen, University of Antwerp
Dynamic group discussion
Speakers and attendees
14.45 – 15.15
Poster Session & Networking Coffee Break
15.15 – 16.00
Research Talk Session III
A human cortical assembloid model of Dravet Syndrome
Clara Zourray, UCL Queen Square Institute of Neurology
Sleep and temperature dysregulation in a Dravet syndrome mouse model
Saja Fadila, Tel Aviv University
Local reactivation of Scn1a gene in a reversible mouse model of DS
Gaia Colasante, San Raffaele Scientific Institute
16.00
Best Oral and Best Poster Presentation Awards, close & thank-yous
José Ángel Aibar, Fundación Síndrome de Dravet
Venue
The Dravet Syndrome Conference 2023 will take place at the Official College of Nursing of Madrid (Spain), located in the former factory of the American sewing machine company Singer, an emblematic building of the 20th century. The venue is located at Avenida de Menéndez Pelayo, 93, in the heart of the city and less than 10-minute walk away from Paseo del Prado and Atocha station.
Breaks and lunch will take place in the Nursing History Museum of the Official College of Nursing in Madrid, which is the only nursing museum in all of Spain, receiving visitors from all over the world.
Submit your Abstract and Apply for a Travel Grant
Welcome to the abstract submission and travel grant application form. Abstracts that are sent via e-mail or fax will not be included in the abstract assessment process by the Scientific Organizing Committee.
Please note that to ensure diversity we seek to allow only one oral platform lecture (short or flash) per presenting author. If the presenting author is different, more than one oral presentation can be submitted by institution.
For technical problems or submission support, please contact [email protected].
Twenty travel grants of max. 300 EUR will be awarded to PhD students and postdocs from Armenia, Bulgaria, Croatia, Czech Republic, Estonia, Georgia, Hungary, Latvia, Lithuania, Malta, Poland, Romania, Slovakia, Slovenia, Turkey, and Slovenia to cover travel and/or accommodation expenses to attend the meeting. Applicants will book their own travel tickets and accommodation, and send (i) a copy of the tickets/booking reservations, (ii) a copy of corresponding invoice(s) and (iii) the proof(s) of payment(s) to Dravet Syndrome Foundation Spain at [email protected] for reimbursement once the event has taken place.
It is compulsory to submit an abstract to apply for a travel grant. Travel grants may be awarded to workshop attendees even if their abstract is not selected for oral presentation.
Grants will be awarded on a first-come first-served basis. In case of travel grant budget remains, grants will be awarded to other PhD students and postdocs, again on a first-come first-served basis, until the budget is finalised. Therefore, all PhD students and postdocs are invited to apply for a grant!
DEADLINES:
Please, remember the following important dates:
- Abstract Submission Deadline: 15th of January 2023 at 23:59 CET.
- Email notification of Selected speakers: 27th of January 2023.
- Reception of final presentation deadline: 17th of March 2023 at 23:59 CET.
- Conference Date: 24th of March 2023.
ABSTRACT SUBMISSION GUIDELINES
Abstracts may be selected for poster and/or short (12 minutes of presentation plus 3 minutes for discussion) or flash (8 minutes of presentation plus 2 minutes for discussion) oral presentations. Abstracts should highlight original research or protocols on advanced therapy medicinal products (ATMPs) for Dravet syndrome or related disorders. If different abstract and presenting author, more than one abstract can be submitted per institution.
Abstracts will be evaluated by the Scientific Organizing Committee, composed by members of the European Dravet Syndrome Advanced Therapies Working Group (EDSAT WG). The EDSAT WG is an alliance formed by leading European scientists in the field of ATMPs for Dravet syndrome and related disorders.
For confidentiality reasons, only the title, authors and affiliations will be published in the online booklet. Full abstracts will only be published in the printed booklet that attendees will receive on the day of the workshop.
AUTHORS AND FORMAT
- Authors should indicate their oral presentation preference: short talk (15 minutes) or flash talk (10 minutes). The Scientific Committee reserves the right to decide on the final presentation type.
- Abstracts with multiple authors can only be submitted once, by the presenting author.
- The presenting author assumes full responsibility for the contents of the abstract and confirms that all other authors consent to the submission of the abstract.
- All abstracts must be submitted and presented in English.
- Abstracts must have the following structure: Introduction, Methodology, Results, Conclusions, and Acknowledgement/Funding, if applicable.
- Abbreviations should be defined the first time they appear in the text, before being used as an abbreviation only. Please, do not define or use abbreviations in the title.
- The abstract’s title can contain a maximum of 100 characters.
- Abstracts should have between 1250 and 1500 characters. Title, authors’ names and affiliations are not included in this limit.
- Tables, figures, or other graphics are not allowed during abstract submission.
- Authors affiliations should be written correctly, using capital letters, and avoiding abbreviations.
EVALUATION
Special consideration will be given to:
- Clarity in the exposition of the different sections.
- Innovative potential.
- Scientific impact and social relevance.
- Soundness of the applied methodology.
- Consistency between the obtained results and the proposed conclusions.
Selected speakers will receive all information regarding time and format of their presentations in a separate e-mail after evaluation.
If you face any problems during the submission process, contact us directly at [email protected].
ABSTRACT AND TRAVEL GRANT SUBMISSION FORM
Become a sponsor
To learn about the EDSAT2023 sponsoring options, contact us at [email protected] or by phone at +34 722 307 252.
Registration
Attendance to this conference is free of charge, but mandatory for organisational reasons. You just need to fill in the fields below to register for the European Dravet Syndrome Advanced Therapies Meeting 2023, that will take place on next 24th of March 2023 in Madrid. At no cost, the registration includes coffee and beverages, lunch, attendance to all sessions and the conference materials. However, to maximise networking opportunities, this event is limited to 50 attendees, who will be processed on a first come first served basis.
For more information on this event, visit the Home page.
Reunión Anual de Familias
Cuándo y Dónde: 25 de marzo de 2023 en Madrid
Un año más y con mucho ilusión, la Fundación Síndrome de Dravet ya está preparando la Reunión Anual de Familias 2023, en la que podréis comprobar de primera mano los progresos de la Fundación y de la investigación en esta enfermedad, así como algunas de las novedades más relevantes en el plano social. Este encuentro nos ofrece además la oportunidad perfecta para encontrarnos e interactuar con otras familias que viven con la misma enfermedad a la misma vez que intercambiar experiencias, preocupaciones y esperanzas.
La Reunión Anual de Familias volverá a tener lugar en Madrid, más concretamente el sábado 25 de marzo de 2023 en el Colegio Rafaela Ybarra, un centro educativo que cuenta con todas las instalaciones para que la reunión sea todo un éxito.
El período de inscripción está abierto hasta el martes 31 de enero de 2023 a las 23.59 horas, cumplimentando el formulario de inscripción con los datos de aquellas personas del ámbito familiar que vayan a acudir a este encuentro (no es necesario incluir los datos de aquellos miembros de la familia que no vayan a asistir).
Al igual que hicimos en nuestros últimos encuentros anuales, aunque aún estamos trabajando en definir el establecimiento donde nos alojaremos, la Fundación Síndrome de Dravet volverá a subvencionar y pagar gran parte del coste del alojamiento de aquellas familias de la Fundación que sean de fuera de Madrid y que efectivamente necesiten alojamiento para el fin de semana, con el objetivo de facilitar e incentivar la participación de todas las familias que componen la Fundación Síndrome de Dravet. También, nos encargaremos del catering necesario para la jornada del encuentro.
Durante el encuentro anual, la Fundación pondrá en marcha un servicio de cuidadores y de actividades de ocio para los niños Dravet y sus hermanos. Además, contaremos con profesionales especializados y nos aseguraremos también de que se cumplan todas las medidas sanitarias necesarias.
A pesar de que aún quedan unos meses para esta cita, ya estamos trabajando a fondo tanto en el programa como en el resto de detalles para que podamos disfrutar de un magnífico día junto con las demás familias Dravet que asistirán venidas de toda la geografía española y más allá.
¡Esperamos veros a todos!