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The Genetically Based Neurodevelopmental Disorders research groupof the Institute of Research and Innovation Parc Taulí and the Pediatric Neurology Unitof the Parc Taulí that work in the research and assistance of patients with Angelman Syndromehave organized the first edition of the European Workshop for Angelman Syndrome(EWAS), with the aim of improving the clinical approach and research for this minority disease.
The conference has gathered for first time in Catalonia professionals from expert centers Angelman syndrome from all over Europe, who have deepened the knowledge of the mechanisms underlying this syndrome.
The neuropediatrician and I3PT researcher Ana Roche, who led the organization of the conference, highlighted the creation of first European working group to unify the management of this minority disease from a multidisciplinary and comprehensive perspective from early childhood to adulthood, coordinating paediatricians, neuropediatricians, psychologists, neurophysiologists, orthopedists, rehabilitators, speech therapists and physiotherapists.
Angelman Syndrome is a genetic disorder that causes developmental delay, speech and balance problems, intellectual disability and sometimes seizures. It is usually caused by problems in a gene located on chromosome 15.
The Parc Taulí is expert center of the Network of Clinical Expertise Units (XUEC) in Genetic Behavioral Cognitive Disorders in Pediatric Age, being the main coordinator in the care process for Angelman Syndrome.
EWAS has had the recognition of the European Joint Program for Rare Diseases and the active participation of patients' families from all over Europe and Latin America, as well as the support of the Foundation for Angelman Syndrome Therapeutics (FAST) and Asociación of Angelman Syndrome (ASA). Likewise, this event has received funding from the European Union's Horizon 2020 research and innovation program under EJP RD COFUND-EJP N° 825575.
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