CAT CAS ENG

A Consortium Built by People

The people and institutions
behind PKU.CAT

The PKU.CAT consortium is the result of collaboration between leading institutions and a multidisciplinary team of experts working together to improve the quality of life for patients with phenylketonuria. Below, we highlight the institutions involved and their fundamental role in this project, as well as the individuals who contribute to making it a reality.

Institutions

Hospital Clínic de Barcelona

Hospital Clínic is an internationally renowned healthcare centre in medical care and research. Through its work in inherited metabolic diseases, it contributes to the diagnosis, treatment, and follow-up of PKU patients.

Hospital Sant Joan de Déu (HSJD)

Hospital Sant Joan de Déu is a leader in paediatrics and inherited metabolic diseases. It provides early diagnosis, comprehensive follow-up, and support for families affected by PKU, serving as a national and European reference centre.

IDIBAPS

IDIBAPS is a leading biomedical research centre linked to Hospital Clínic de Barcelona and the University of Barcelona. With a translational research approach, it contributes to the PKU.CAT consortium with innovative investigations to improve the diagnosis and treatment of phenylketonuria.

Universitat de Barcelona

The University of Barcelona contributes its scientific and academic knowledge in the field of biomedical research, being part of the consortium through interdisciplinary projects that connect basic and applied research.

CIBEROBN (Centro de Investigación Biomédica en Red de Enfermedades Raras)

This research network brings together top scientific groups across Spain to drive research, diagnosis, and the development of new therapies for rare diseases.

CIBEROBN (Centre de Recerca Biomèdica en Xarxa de Fisiopatologia de l’Obesitat i Nutrició)

This centre plays a key role in investigating the relationship between nutrition and metabolic diseases such as PKU, contributing to innovative therapeutic strategies.

CIBERES (Centre de Recerca Biomèdica en Xarxa de Malalties Respiratòries)

CIBERES contributes to the PKU.CAT project with its expertise in translational research and the analysis of metabolic aspects that can impact patient health.

CIBERFES (Centre de Recerca Biomèdica en Fragilitat i Envelliment Saludable)

This consortium promotes active and quality ageing, reducing age-related frailty through the study of biological, social, and environmental factors contributing to healthy ageing.

Marató de TV3

La Marató de TV3 is a solidarity initiative that has made this project possible through financial support, promoting research in rare diseases and the development of new therapeutic tools.

People

IDIBAPS – Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Glòria Garrabou</mark>

Dra. Glòria Garrabou

Head of Group at IDIBAPS. Lead Investigator in Mitochondria, Oxidative Stress and Mitoquines, and Project Lead of PKU.cat

IDIBAPS, Inherited Metabolic Diseases and Muscular Disorders Group

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Climent Casals-Pascual</mark>

Dr. Climent Casals-Pascual

Head of Microbiology Service, Lead Investigator in Microbiota for PKU.cat

Hospital Clínic de Barcelona, ISGlobal, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Emilio Ortega</mark>

Dr. Emilio Ortega

Endocrinologist. Lead Investigator in Cardiovascular Risk for PKU.cat

Hospital Clínic de Barcelona, Unitat de lípids i risc vascular, Servei d’Endocrinologia i Nutrició, IDIBAPS, Universitat de Barcelona, CIBEROBN

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Félix Andújar-Sánchez</mark>

Félix Andújar-Sánchez

PhD Researcher

Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Ana Argudo-Ramírez</mark>

Dra. Ana Argudo-Ramírez

Senior Specialist

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Gemma Chiva-Blanch</mark>

Dra. Gemma Chiva-Blanch

Associate Professor

Hospital Clínic de Barcelona – IDIBAPS, Universitat Oberta de Catalunya (UOC)

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Judit García Villoria</mark>

Dra. Judit García Villoria

Head of the Section of Congenital Metabolic Errors

Hospital Clínic de Barcelona, IDIBAPS, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. José Manuel González de Aledo Castillo</mark>

Dr. José Manuel González de Aledo Castillo

Senior Specialist

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Mariona Guitart Mampel</mark>

Mariona Guitart Mampel

Postdoctoral Researcher

Hospital Clinic de Barcelona, IDIBAPS, Universitat Barcelona, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Paula Isern</mark>

Paula Isern

Dietitian-Nutritionist

Hospital Clínic de Barcelona, IDIBAPS

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Amanda Jimenez Pineda</mark>

Dra. Amanda Jimenez Pineda

Senior Specialist in Endocrinology and Nutrition, Associate Professor

Hospital Clínic de Barcelona, Servei d’Endocrinologia i Nutrició, IDIBAPS, CIBEROBN, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Berta Laudo</mark>

Berta Laudo

Bioinformatician

Hospital Clínic de Barcelona, IDIBAPS

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Rosa Maria López Galera</mark>

Dra. Rosa Maria López Galera

Clinical Biochemistry Specialist

Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, CIBERES

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Forga Visa Maria de Talló</mark>

Dra. Forga Visa Maria de Talló

Senior Specialist

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. José César Milisenda</mark>

Dr. José César Milisenda

Senior Specialist

Hospital Clínic de Barcelona, IDIBAPS, UB

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Cristina Montserrat-Carbonell</mark>

Cristina Montserrat-Carbonell

Nutritionist

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Blai Morales Romero</mark>

Dr. Blai Morales Romero

Specialist in Clinical Biochemistry

Hospital Clínic de Barcelona, Congenital Metabolic Errors Unit, Biochemistry and Molecular Genetics Service, IDIBAPS, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Md. Pedro Juan Moreno Lozano</mark>

Md. Pedro Juan Moreno Lozano

Specialist in Internal Medicine, Unit Coordinator, Associate Professor

Hospital Clínic de Barcelona, Congenital Metabolic Errors Unit (UEC and CSUR), IDIBAPS, Universitat de Barcelona, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. M. Julián Moreno Rojas</mark>

Dr. M. Julián Moreno Rojas

Specialist in Radiodiagnostics

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Mònica Nos</mark>

Mònica Nos

Nurse

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Montserrat Ortega Ferrer</mark>

Montserrat Ortega Ferrer

Laboratory Technician

Universitat de Barcelona, Hospital Clínic

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Joan Padrosa Pulido</mark>

Dr. Joan Padrosa Pulido

Hospitalisation Unit Assistant

Hospital Clínic de Barcelona, IDIBAPS

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Adriana Pané</mark>

Dra. Adriana Pané

Specialist in Endocrinology and Nutrition

Hospital Clínic de Barcelona, CIBEROBN

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Abraham J Paredes-Fuentes</mark>

Dr. Abraham J Paredes-Fuentes

Specialist in Clinical Analysis

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Elisa Rubio Garcia</mark>

Elisa Rubio Garcia

Specialist in the Microbiology Service and CORE Molecular Biology Laboratory

Hospital Clínic de Barcelona, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Ester Tobías Baraja</mark>

Ester Tobías Baraja

Laboratory Technician

Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Josep Torremade</mark>

Dr. Josep Torremade

Consultant in Urology

Hospital Clínic de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Laura Valls Roca</mark>

Laura Valls Roca

Investigadora Predoctoral

Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Roser Ventura Roca</mark>

Roser Ventura Roca

Nurse

Hospital Clínic de Barcelona, Institut Clínic de Medicina i Dermatologia

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Andrea Vergara Gómez</mark>

Dr. Andrea Vergara Gómez

Senior Specialist

Hospital Clínic de Barcelona, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Clara Viñals</mark>

Dra. Clara Viñals

Specialist in Endocrinology and Nutrition

Hospital Clínic de Barcelona

Hospital Sant Joan de Déu

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Aida Ormazabal Herrero</mark>

Dra. Aida Ormazabal Herrero

Clinical Biochemistry Specialist. Head of Centre and Principal Investigator for Paediatric Patients in the PKU.cat project

Hospital Sant Joan de Déu Barcelona, Congenital Metabolic Diseases

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr Jaume Campistol Plana</mark>

Dr Jaume Campistol Plana

Paediatric Neurologist

Hospital Sant Joan de Déu Barcelona, Congenital Metabolic Diseases

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dolores García-Arenas</mark>

Dolores García-Arenas

Clinical Paediatric Dietitian

Hospital Sant Joan de Déu – Institut de Recerca Sant Joan de Déu, UVic, Facultat de Ciències de la Salut i el Benestar

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr Silvia María Meavilla Olivas</mark>

Dr Silvia María Meavilla Olivas

Consultant paediatrician in the Department of Gastroenterology, Hepatology and Nutrition. Coordinator of the Clinical Nutrition Unit.

Hospital Sant Joan de Déu

Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Prof. Carme Junqué</mark>

Prof. Carme Junqué

Head of the Medical Psychology Unit. Head of Centre and Principal Investigator of Brain Connectomics in the PKU.cat projectt

IDIBAPS, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Prof. Dra. Bàrbara Segura Fàbregas </mark>

Prof. Dra. Bàrbara Segura Fàbregas

Full Professor. Head of Centre and Principal Investigator of Brain Connectomics in the PKU.cat project

Universitat de Barcelona, IDIBAPS, CIBERNED

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Mireia Urpi-Sarda</mark>

Dra. Mireia Urpi-Sarda

Associate Professor. Principal Investigator of Metabolomics in the PKU.cat project

Universitat de Barcelona, CIBERES

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Blanca Barrau-Martinez</mark>

Blanca Barrau-Martinez

PhD Researcher

Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Clara Capdevila i Lacasa</mark>

Clara Capdevila i Lacasa

Researcher

IDIBAPS, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Arnau Gonzalez Rodríguez</mark>

Arnau Gonzalez Rodríguez

PhD Researcher

Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Rafael Llorach Asunción</mark>

Dr. Rafael Llorach Asunción

Associate Professor

Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Jèssica Pardo Ruiz</mark>

Jèssica Pardo Ruiz

PhD Researcher

IDIBAPS, Universitat de Barcelona, Institut de Neurociències UB

Former Members of the Consortium

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Josep Maria Grau</mark>

Dr. Josep Maria Grau

Senior Specialist, former PKU.cat Project Leader

Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, CIBERER

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dra. Judith Cantó Santos</mark>

Dra. Judith Cantó Santos

Postdoctoral Researcher

IDIBAPS, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Dr. Francesc Cardellach</mark>

Dr. Francesc Cardellach

Emeritus Consultant

Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona

<mark style="background-color:rgba(0, 0, 0, 0)" class="has-inline-color has-base-color">Judith Viaplana</mark>

Judith Viaplana

Nurse

Hospital Clínic de Barcelona, Hospital Universitari de Bellvitge