News
06/10/2020A team led by CIBERER researcher Belén Pérez has confirmed that proteostasis regulators may be key to develop a therapeutic approach for the most common congenital defect of glycosylation (CDG), phosphomanomutase-2 deficiency (PMM2-CDG) . The experiments have been conducted in cellular models of...
05/26/2020ECRD 2020 , the annual meeting considered the largest global patient-led event dedicated to rare diseases , took place on May 14th-16th 2020. The event aims, through collaborative dialogue and learning, to lay the foundations that will shape future global policies on rare diseases . This year all...
05/06/2020Due to the situation generated by the current COVID-19 pandemic, it may be relatively frequent for children and adolescents to face the loss of significant people in the coming weeks or months, and, in many cases, these losses will be unexpected and sudden . This article offers a series of...
03/23/2020An international team of researchers led by Aurora Pujoll from IDIBELL characterized a new model of the Caenorhabditis elegans worm that lacks the pmp-4 gene , which has the same function as the ABCD1 gene in humans and whose loss causes X-linked adenoleukodystrophy (X-ALD). This rare disease of...
03/18/2020En Rare Commons sabemos que el conocimiento se traduce en una mejor calidad de vida cuando nos referimos al mundo de la salud. Cuanto más conocimiento tengan las familias y los pacientes sobre su enfermedad, sobre investigación biomédica o el sobre desarrollo de medicamentos más podrán empoderarse...
03/06/2020La 25ª edición del Congreso Nacional sobre Osteogénesis Imperfecta se celebrará los próximos días 27 , 28 y 29 de marzo en el Hotel Abades Nevada Palace Granada. Este evento ha sido organizado por la Asociación AHUCE , una organización nacional que lleva más de 20 años atendiendo a las necesidades...
02/21/2020In Barcelona a very special day on the occasion of World Rare Disease Day.
02/17/2020The results of this research allow us to go one step further in understanding.
02/12/2020This X-linked pathology produces severe intellectual disability.
12/02/2019La Marató de TV3 es un programa solidario que cada año recauda fondos para la investigación.