NEWS

26.11.2018

During the II Interhospitalary Conferencess that took place past 26th November at Hospital Clínic de Barcelona, URDCat Project was very well represented by Alfons Macaya, MD, Ph.D and his oppening lecture called “Neurogenetics at the NGS era: challenges”; and URDCat Project’s preliminar results were also commented by several membres during their conferences.

12.04.2018

Personalized medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease and in many cases refining an individual’s clinical care.

In this Symposium our Project collaborators MD PhD Alfons Macaya and PhD Sergi Beltran participated with the communications:

Alfons Macaya, MD PhD: Precision Medicine in Pediatric Neurogenetic Disorders

Sergi Beltran, PhD: Piloting the implementation of...

02.03.2018

During past 28th February Rare Diseases Day took place in Vall d’Hebron and it’s 11th session was organized by Plataforma de Malalties Minoritàries. This year’s slogan was “Fem pinya, Fem recerca” (stick together, let’s do research), emphatizing the importance of research as a driving force in which patients are every time more involved.

Emphasis was also placed on conducting research at the international level, so rare diseases research can be guarant...

02.03.2018

Past 26th February the second Hands-on Workshop about RDCat Genomic Platform took place on UPF Campus Mar. During this advanced workshop, Project investigators have been trained in PhenoTips module: how to export data, mark solved cases and mark their clinic and molecular diagnose as well. Secondly, about the Submission Platform: this module allows every group to manage their data. Then, about the Genomic Platform: investigators were trained in this P...

27.11.2017

During the Interhospitalary Conferencess that took place past 27th November at Hospital de la Santa Creu I Sant Pau, we had the opportunity to present URDCat Project through Dr. Sergi Beltrán’s talk called “Implementation of Genomics based MP in non-diagnosed Rare Diseases”.

Link to the conferences program

07.09.2017

Past 07.09, the first Hands-on Workshop about RDCat Genomic Platform took place on UPF Campus Mar, this Platform has been developed by CNAG inside URDCat Project. During this workshop, Project investigators have been trained in analysis and selection of NGS data, to identify disease causing gene variants. Different annotations and filters were detailed and also tolos like Exomixer, MatchMaker Exchange,…

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