PKU.CAT

Published: 24 November 2023| Version 1 | DOI: 10.17632/xr4m29cm29.1
Contributor:
Adriana Pane

Description

CONSORTIUM PKU.CAT The Consortium PKU.CAT began in 2021 as a private-public partnership under the leadership of Dr. Josep M Grau-Junyent, Dra. Glòria Garrabou, Dra. Aida Ormazabal, Dra. Carme Junqué and Dra. Bàrbara Segura. The PKU.CAT is an interdisciplinary healthcare team of basic and clinical researchers, who belong to different universities (Universitat de Barcelona), medical (Hospital Clínic de Barcelona, Hospital Sant Joan de Déu) and research centers (Fundació Clínic per la Recerca Biomèdica, Institut d'Investigacions Biomèdiques Pi i Sunyer, Sant Joan de Déu Institut de Recerca) in Barcelona, Catalonia (Spain), devoted to the assistance of patients with phenylalanine disorders. PKU.CAT final aim is to improve the quality of life of the affected patients and their families, to change the natural history of the disease, and to gain further insight into the causes of poor clinical outcomes, both cardiovascular and neurological. La Marató de TV3 Foundation promoted the main body of research of this Consortium, which has been focused on cardiovascular risk assessment, through an investment of 322.992,0 €: PHENYLKETONURIA: FROM CHILDHOOD TO ADULTS THROUGH BRAIN FUNCTIONAL CONNECTOMICS, CARDIOVASCULAR CHANGES, METABOLOMIC AND INTESTINAL MICROBIOTA CHARACTERISTICS (starting date 20/05/2021). A current list of the whole membership can be found here: * Hospital Clínic – IDIBAPS – Fundació Clínic per la Recerca Biomèdcia: Argudo-Ramírez, Ana; Cantó, Judith; Cardellach, Francesc; Casals-Pascual, Climent; Chiva-Blanch, Gemma; Forga-Visa, Maria de Talló; García-García, Francesc Josep; García-Villoria, Judit; Garrabou, Glòria; González de Aledo-Castillo, José Manuel; Grau-Junyent, Josep M; Guitart-Mampel, Mariona; Isern, Paula; Jiménez, Amanda; Laudo, Berta; Andújar-Sánchez, Félix; López-Galera, Rosa Mª; Milisenda, José Cesar; Montserrat-Carbonell, Cristina; Morales, Blai; Moreno-Lozano, Pedro Juan; Moreno, Julián; Nos, Mònica; Ortega Ferrer, Montserrat; Ortega, Emilio; Padrosa, Joan; Pané, Adriana; Paredes, Abraham José; Rubio, Elisa; Tobías, Ester; Torremade, Josep; Valls, Laura; Ventura, Roser; Vergara-Gómez, Andrea; Viaplana, Judith; Viñals, Clara. * Hospital Sant Joan de Déu – Fundació Sant Joan de Déu: Campistol, Jaume; García-Arenas, Dolores; Meavilla, Silvia; Ormazabal, Aida. * Universitat de Barcelona: Barrau-Martínez, Blanca; Capdevila-Lacasa, Clara; González-Rodríguez, Arnau; Junqué, Carme; Llorach, Rafael; Pardo, Jessica; Segura, Barbara; Urpi-Sarda, Mireia.

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Categories

Cardiovascular Endocrinology, Metabolomics, Cognition, Inborn Error of Metabolism, Phenylalanine, Phenylketonuria

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