The facade of the City Hall will be lit up in blue on the occasion of International Angelman Syndrome Day

The facade of the City Hall building will be lit up in blue today, February 15, on the occasion of the International Day of Angelman Syndrome. The council thus joins the initiative to promote research into this disease by the Angelman Syndrome Unit which is part of the network of Clinical Expertise Units for Rare Diseases at the Parc Taulí University Hospital and from the entities FAST-España (Foundation for Angelman Syndrome) and ASA Asociación del Síndrome de Angelman.

El Parc Taulí is one of the centers of reference for the diagnosis and follow-up of these patients from all over Spain. And clinical trials, research projects and conferences aimed at professionals and families have been implemented there. 

FAST aims to cure Angelman syndrome through stimulating research. ASA aims to facilitate communication between families and offer advice and information about the disease so that affected people enjoy a good quality of life as well as stimulating research at all levels.

Angelman syndrome, discovered in 1964 by Dr. Harry Angelman, is a disease of neurogenetic etiology that is characterized by a delay in the development of the person. The genetic cause of Angelman Syndrome is the lack of expression ofUBE3A on chromosome 15 of maternal origin and originates through different mechanisms such as deletions, mutations, uniparental disomy and epigenetic defects. This syndrome is not diagnosed at birth but begins to become evident between 6 and 12 months.  

More information:

https://www.tauli.cat/es/hospital/malalties-minoritaries/uec-mcc/sindrome-d-angelman

https://www.cureangelman.es/

https://angelman-asa.org/