Rare Diseases

  • About the area
  • Groups

The mission of the Rare Diseases area is to investigate and advance those groups of diseases in which the Parc Taulí Health Corporation is a reference center for their diagnosis and treatment.

It is made up of three research groups made up of professionals with profiles that are characterized by their multidisciplinarity and cohesion, with an important course of joint work: biology, genetics, paediatrics, physiotherapy, clinical psychology and nursing, who share the goal of improving the knowledge of these diseases based on basic research and that applied to the clinic.

Strategic lines of the area

  • Study of minority diseases prevalent in our population; childhood obesity, genetically based intellectual disability, Prader Willi syndrome, cystic fibrosis.
  • Application of bioinformatics for the improvement of diagnosis and treatment.
  • Study of disorders during puberty.
  • Childhood and juvenile diabetes.
Area coordination
Raquel Corripio Collado

rcorripio@tauli.cat

Group A5G2 - Growth and development disorders

Accreditation level: Popup group

GRE 2021 SGR 01307

Our group was born in the context of the minority diseases group with the aim of consolidating a pediatric research group. We are predominantly pediatricians with an interest in the hypotheses that arise in the daily care clinic. Belonging to different scientific societies gives us the networks that allow us to participate in national and international multicenter collaborative studies. On the other hand, being the center of reference for Prader-Willi Syndrome (SPW), we try to spread the evidence that we are accumulating in the care of these children.

Apart from the SPW line of research, our team also focuses on research into type 1 diabetes mellitus with the aim of improving the quality of life of children, either through the application of new technologies in the field. disease management or by immunological study at the onset of the disease. On the other hand, our group also investigates in the line of growth and developmental disorders such as early puberty, telarchy and hormonal disruptors and short stature, participating in pharmacovigilance studies and clinical trials with growth hormone.

In addition to the group's strategic lines, the research team also carries out projects in the fields of nursing in pediatric emergencies, neonatology, and inflammatory bowel disease in children and young people.

Lines of research

  • Type 1 diabetes mellitus: new technologies in disease management, immunological study at the onset of the disease, and improvement of quality of life.
  • Prader-Willi syndrome and other causes of childhood and adolescent obesity.
  • Growth and Developmental Disorders: Early puberty, telarche and disruptive, low stature.

Composition of the group

Raquel Corripio Collado (Group leader)

Doctoral research staff

  • Alvarez Garcia, Natalia
  • Betancourth Alvarenga, Joshua
  • Sánchez Manubens, Judith
  • Velasco Zúñiga, Roberto

Non-doctoral research staff

  • By Luis Rossell, Daniel
  • Domingo Puiggros, Monica
  • Herruzo Pino, Paula
  • Leon Carrillo, Beatriz
  • Loverdos Eseverri, Inés
  • Moya Villanueva, Sandra
  • Perea Duran, Granada
  • Perez Sanchez, Jacobo
  • Ranera Málaga, Adrián
  • Sanchez Molina, Carmen Maria
  • Santiago Martínez, Session
  • Monmany Tower, Núria

PhD

  • Cahís Vela, Núria
  • Núñez Garcia, Bernardo
  • Vallés Cardona, Griselda

Support professionals

  • Infante Garcia, Sergio
  • Pons Pous, Joan

Group A5G3 – Genetically based neurodevelopmental disorders

Accreditation level: Consolidated group

GRE 2021 SGR 01307

Intellectual disorders of genetic origin have been a priority in our care and research activity for more than 30 years. The Corporación Sanitària Parc Taulí implemented in 1997 the Care Unit for cognitive and behavioral disorders with a genetic basis, which provides multidisciplinary care (neurology, clinical genetics, biology, endocrinology, psychology and psychiatry) to patients affected by minority syndromes genetic basis Studies of neurodevelopmental disorders in children and adults are aimed at deepening the etiopathogenic basis, clinical and management problems, prognosis, treatment and genetic counseling. Patients with neurodevelopmental disorders are more susceptible to psychiatric/behavioral disorders than the general population in both childhood and adulthood.

This line has been supported by the Department of Health of the Generalitat de Catalunya, recognizing our team as:

  • Clinical Experience Unit (UEC) for Angelman, Prader-Willi, Fragile X syndromes, sexual anomalies and genetic-based intellectual disability (DOG, instruction 12/2015)
  • Genetics laboratory qualified as a reference center for genetic behavioral cognitive disorders (DOG, instruction 06/2015).

En l'atenció al Síndrome d'Angelman (SA), som referents per a l'Associació Espanyola i Catalana del SA, i s'ha desenvolupat un protocol d'atenció mèdica integral i un algorisme pel diagnòstic genètic. Several of our members participate in the Scientific Committee of FAST-Spain, promoting and advising on specialized research in SA. Our center participates in a phase I and another phase I/II trial with ASO and another in phase I/II with a GABA modulator also for patients with AS.

Our research for Fragile X Syndrome (FXS) focuses on the diagnosis, treatment and management of this condition, on its heritability and prevention, and on the pathology associated with this syndrome with the aim of improving the quality of life of patients affected by the syndrome and their families. Within this group, a special population is that of girls with SXF, a still underdiagnosed condition for which our group is a benchmark.

Lines of research

  • Innovation in the development of omics and big data technologies for the search for genomic variants associated with neurodevelopmental disorders.
  • Analysis of genetic factors involved in the susceptibility of neuropsychiatric disorders.
  • Development of new therapies and precision medicine for the treatment of neurodevelopmental disorders, based on individual genetic information.
  • Personalization of clinical management in patients with neurodevelopmental disorders of genetic basis, both in pediatric age and in adult life, in order to ensure an adequate transition.
  • Study and clinical and molecular characterization of genetically based neurodevelopmental disorders.

Composition of the group

Anna Ruiz Nello (co-group leader) ORCID

Ana Roche Martinez (co-group leader) ORCID

Doctoral research staff

  • Baena Díez, Neus
  • Brunet Vega, Anna
  • Guitart Feliubadaló, Míriam
  • Play Elvira, Lorraine
  • Martínez González, Víctor Manuel
  • Moraleda Cibrian, Marta
  • Trujillo Quintero, Juan Pablo
  • Spataro, Nino

Predoctoral

  • Meek Bazus, Carmen
  • Itzep Pérez, Debora Coritza
  • Mir Parramón, Marina

Non-doctoral research staff

  • Capdevila Atienza, Nuria
  • Escofet Soteras, Concepción
  • Gabau Vila, Elisabeth
  • García Besteiro, Maria
  • Gelman Bagaria, Anna
  • Gual Sánchez, Maria
  • Olivé Cirera, Gemma
  • Ramírez Mallafré, Ariadna
  • Rubio Roy, Marta

Associated professionals

  • Ruiz Elena, Pablo Andres

Group A5G5 - Cystic Fibrosis (CF)

Accreditation level: Consolidated group

GRE 2021 SGR 01307

Our lines are focused on research on the pathophysiology of inflammation, with Cystic Fibrosis (CF) patients, mainly focused on lung inflammation and at the systemic level. Our challenge in the coming years is to address the study of the pathology associated with CF patients from a broad, comprehensive, multidisciplinary, humanized and patient-centered perspective and to promote strategies that allow us to adjust treatments to particular needs. and in the follow-up of these patients.

The research team is multidisciplinary and is composed of researchers of different profiles which allows the development of clinical research projects. Noteworthy is the collaboration with the FQ research groups in Sant Joan de Deu in Barcelona.

Lines of research

  • Assessment of inflammation in cystic fibrosis.
  • Efficacy and tolerance of targeted therapies in the control of asthma and rhinitis.
  • Therapeutic measures aimed at oral immunotherapy to food.
  • Diagnosis and treatment of severe asthma.
  • Adherence to asthma treatment.

Composition of the group

Laura Valdesoiro Navarrete (Group Leader)

Doctoral research staff

  • Pineda Solas, Valentí

Predoctoral

  • Ayats Vidal, Roser
  • Baucells de la Peña, Andrés
  • García González, Miguel
  • Valiente Planas, Andrea

Non-doctoral research staff

  • Asensio de la Cruz, Óscar
  • García Tirado, Diana
  • Susanna Calero, Marta
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