SAVE THE DATE/Abstracts welcome: EPNS Congress 20-24 June 2023 Congress Center Prague
Welcome to the 15th Congress of the European Paediatric Neurology Society (EPNS) with the main highlight “From genome and connectome to cure”. We invite you to see how the latest trends in understanding pathophysiology of neurological diseases are being implemented in clinical practice. Our field has traditionally focused on precise diagnostics; however, curative treatments were unavailable for a long time. Today, this trend is changing rapidly and novel therapeutic options in our field have brought hope to many families of children even with the most severe neurological conditions. Learn more and SUBMIT your ABSTRACT (closes 31 December 2022): https://epns-congress.com/
The third edition of the Rome workshop “In search of lost time” is taking place this winter, from December 13th to 15th!
This year’s topic is « From Epileptogenesis to Clinical care ». The workshop is organized by Italian epilepsy teams and is endorsed by the European Reference Network of Rare and Complex Epilepsies, ERN EpiCARE, and by the ILAE.
The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.
The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine.
The European Huntigton Association is conducting a webinar ‘Access to health care services and support for HD patients in Europe’ on 8. December 2022, at 3 pm CET. For more information and to register click here.
The information, gathered by experts and published in systematic literature reviews, is now stored and accessible in the Treatabolome DB. Currently, the database includes up to 180 treatments associated with more than 1000 distinct variants – mainly for neuromuscular disorders. Records are completed with clinical information by using standard vocabularies such as HPO, Orphanet, OMIM, Mesh and Chebi. The project is open to new data submissions and collaborations.
This webinar is especially relevant for people involved in rare disease diagnostics & care (clinicians, geneticists, genetic counsellors, etc.). We will:
provide an overview on the Treatabolome Database
explain how to use the information
show how to find a treatment for a specific genetic disease
show how new data is being included and how you can contribute
Date: Friday, 18 November 2022, 2pm CET Speakers: Sergi Beltran, Alberto Corvo, Leslie Matalonga (all CNAG-CRG)
Register for Ataxia Global Conference 2022! It has a focus on trial-readiness for ataxia, bringing together representatives from research, clinics, industry as well as patient advocacy organizations. Our sessions cover cohort updates from different continents, clinical and patient-related outcomes, biomarkers and therapy development in ataxia and include an industry session.
The workshop will have a hybrid format. It will be hosted by Centro Hospitalar Universitário do Porto, Portugal, but participants will also be able to join on line, on Thursday, 27th October. The main aim is addressing the education and training activities currently available in the different centres of the ERN in order to elaborate a common training programme for paediatric transplantation in Europe, providing the trainees with the skills to perform a common and transversal approach to all types of paediatric transplantation procedures. Registration for the workshop is already open until Friday, 14th October at 23:55 CET.
The 8th International Symposium on NBIA will take place from October 13th to 15th, 2022 in Lausanne, Switzerland.
For three days, scientists and medical professionals from all over the world are invited to share their work and develop new strategies. Learn news from NBIA research! Share your experience in treating NBIA and take part in round table discussions!