Dear friends and colleagues,
On the occasion of 40 years since Dravet Syndrome was first defined, and 8 years after organizing the first Workshop in Verona, we are very pleased to invite you once again to this magnificent city for the “Dravet Syndrome and Other Sodium Channel Related Encephalopathies” International Symposium.
The Symposium consists of two days focusing on scientific research relating to genes SCN1A, SCN2A and SCN8A.
The study of epilepsy and the care of children have changed remarkably in recent years, after the identification of the genetic causes of some epilepsy syndromes. The main epilepsy gene- the sodium channel alpha 1 (SCN1A)- has been linked to Dravet Syndrome, to a number of less severe forms of epilepsy, and to febrile convulsions. However, more than 15 years after the causative role of this gene was identified in these forms, and in spite of the large number of patients identified, the spectrum of clinical manifestations associated with SCN1A mutations continues to be enriched by new phenotypes and only recently has enough evidence been collected to foresee to what extent early clinical and genetic predictors seem to influence prognosis. Thanks to the advent of next-generation sequencing, the process that will eventually lead to fully highlight the phenotypical spectrum, long-term outcome, and role of genetic variation in the epilepsies associated with mutations of the other two main sodium channel genes associated with epilepsy- SCN2A and SACN8A- will hopefully be quicker but is until now nonetheless proving relatively slow.
Even slower, and particularly complex, is the process that has led to the gathering of evidence on the sensitivity of these conditions to medication. It has taken more than 16 years since the first controlled trial demonstrated the efficacy of add-on stiripentol in Dravet syndrome, before new trials to test the efficacy of two different molecules, fenfluramine and canabidiol, were launched in this same syndrome, and none seems to be on the horizon for the conditions associated with SCN2A- and SCN8A-related epilepsies.
In order to address the main clinical, genetic and treatment issues that concern
families, the specialists, and basic researchers alike; to explore to what extent disorders arising from mutations in this gene family overlap and differ; to better define the specific burden of comorbidities; and to explore the bases for rational treatment approaches, we have organized a thematic workshop to gather world-leading specialists in Verona to discuss available evidence and perspectives for future developments.
It will be a pleasure to share these two days of scientific research with you.
On behalf of scientific committee
Bernardo Dalla Bernardina, Renzo Guerrini
Please note the timezone for this event is CET
Comprehensive ILAE teaching course with an emphasis on interactive and practical sessions, in Cambridge’s second oldest college.
This is a 3 ½ day residential EEG course that is interactive with an emphasis on interactive, hands-on experience. The content covers normal maturational aspects, abnormal EEG pattern and graphoelements as well as the range of seizures and epilepsies encountered in day to day practice in the first two years of life and consists of lectures and practical workshops during which EEG examples will be reviewed by participants in small groups under the supervision of a faculty tutor.
The course is targeted to paediatric and adult neurologists, neurophysiologists and neonatologist who are dealing with neonates and infants with seizures or epilepsy. It is limited to 48 participants, so early booking is strongly recommended. Basic EEG knowledge is a requirement and applicants will be selected on the basis of their CVs.
The course is organized under the auspice of the Diagnostic Methods Commission of the ILAE. A limited number of bursaries are available.
Creating a Sustainable Environment for Holistic & Innovative Care for Rare Diseases & Complex Conditions Frambu Resource Centre for Rare Diseases, Oslo, 12-13 April 2018 Joint Workshop from EU-funded projects INNOVCare and RD-Action. Co-organised by EURORDIS-Rare Diseases Europe and the University of Newcastle
We are pleased to announce that the next RD-Connect Annual Meeting will take place on the 16 – 18th April 2018, in Athens, Greece. This will be the last RD-Connect annual meeting before the end of the first project funding period.
The European Commision Call for the European Joint Programme Co-fund on Rare Diseases has been published:
The overall objective is to implement a European Joint Programme (EJP) Cofund for Rare Diseases which would create a research and innovation pipeline “from bench to bedside” ensuring rapid translation of research results into clinical applications and uptake in healthcare for the benefit of patients.
The initiative should follow the policies and contribute to the objectives of the International Rare Diseases Research Consortium (IRDiRC).