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 four 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, pediatrics, physiotherapy, clinical psychology and nursing, which share the goal of improving knowledge of these diseases from basic research and 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


Group A5G2 - Growth and development disorders

Accreditation level: Popup group

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

Non-doctoral research staff

  • Domingo Puiggros, Monica
  • Leon Carrillo, Beatriz
  • Loverdos Eseverri, Inés
  • Moya Villanueva, Sandra
  • Perea Duran, Granada
  • Perez Sanchez, Jacobo
  • Ranera Málaga, Adrián
  • Santiago Martínez, Session
  • Monmany Tower, Núria


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

Support professionals

  • Infante Garcia, Sergio
  • Pons Pous, Joan

Group A5G3 - Intellectual disability and psychiatric disorders of genetic origin

Accreditation level: Consolidated group

Intellectual disability of genetic origin has been a priority in our healthcare and research activity for 30 years. The Parc Taulí Health Corporation implemented in 1997 the Care Unit for genetic and behavioral disorders based on genetics, which provides multidisciplinary care (neurology, clinical genetics, biology, endocrinology, psychology and psychiatry) to patients affected by underlying minority syndromes. genetics. En particular en la Síndrome de Angelman de la qual som referents per a l'Associació Espanyola i Catalana de la Síndrome de Angelman, s'ha desenvolupat un protocol d'atenció mèdica integral i un algorisme per al diagnòstic genètic.

Studies of intellectual disability (ID) in pediatric age and in adults focus on delving into the etiopathogenic basis, its clinical and management problems, prognosis, treatment, and genetic counseling. Patients with ID are more likely to have psychiatric / behavioral disorders than the general population.

This line has been supported by the Department of Health of the Generalitat de Catalunya in recognizing us as (i) Unit of Clinical Experience (UEC) for Angelman, Prader-Willi syndromes, fragile X, sexual abnormalities and disability genetic-based intellectual (DOG, instruction 12/2015), and (ii) genetics laboratory qualified as a reference center for genetic-based behavioral cognitive disorders (DOG, instruction 06/2015).

Lines of research

  • Innovation in the development of omic and big data technologies for the search for genomic variants associated with neurodevelopmental disorders.
  • Identification of new genes and improvements in treatment in Angelman syndrome.
  • Analysis of genetic factors involved in the susceptibility of neuropsychiatric disorders.

Composition of the group

Anna Ruiz Nello (Group leader)

Doctoral research staff

  • Baena Díez, Neus
  • Brunet Vega, Anna
  • Guitart Feliubadaló, Míriam
  • Martínez González, Víctor Manuel
  • Trujillo Quintero, Juan Pablo
  • Spataro, Nino


  • Meek Bazus, Carmen
  • Itzep Pérez, Debora Coritza

Non-doctoral research staff

  • Capdevila Atienza, Nuria
  • Escofet Soteras, Concepción
  • Meek Bazus, Carmen
  • Ramírez Mallafré, Ariadna
  • Olivé Cirera, Gemma

Associated professionals

  • Ruiz Elena, Pablo Andres

Group A5G4 - Cognitive-Behavioral Disorders: Fragile X Syndrome (SFX)

Accreditation level: Associated group

The group was created in 2018 in the context of minority diseases in order to improve the quality of life of patients affected by Fragile X Syndrome (SXF) and their families, and to give more visibility to girls who they are suffering from this underdiagnosed disease.

Our research focuses on the diagnosis, treatment and control of SXF, its heritability and prevention, and the diseases associated with this syndrome. We have a multidisciplinary team (neuropediatrics, neuropsychology, psychiatry, clinical and molecular genetics and gynecology, among others) dedicated to both care and research. We also have the support of professionals from the Genetically Based Cognitive Disorders Unit of the CSPT with more than 20 years of experience in this field.

Since 2019, we have been part of the United States-based Fragile X Clinical Consortium, with whom we share protocols, studies, and clinical trials.

Lines of research

  • Cognitive-behavioral phenotype in girls with CFS and detection of adaptive disorders at school level in girls with CFS.
  • Cognitive development and adaptive level in early childhood in fragile X syndromes.
  • Quality of life in the transition from adolescence to adulthood in these patients.

Composition of the group

Ana Roche Martinez (Group leader)

Doctoral research staff

  • Play Elvira, Lorraine


  • Olivé Cirera, Gemma

Non-doctoral research staff

  • García Besteiro, Maria
  • García Catalan, M. Jesús
  • Gelman Bagaria, Anna
  • Rubio Roy, Marta

Group A5G5 - Cystic Fibrosis (CF)

Accreditation level: Consolidated group

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


  • Ayats Vidal, Roser
  • García González, Miguel
  • Valiente Planas, Andrea

Non-doctoral research staff

  • Asensio de la Cruz, Óscar
  • García Tirado, Diana
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