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.
Group A5G2 - Growth and development disorders
Accreditation level: Popup group
GRE 2021 SGR 01307
The research group was born in the context of the group of minority diseases with the aim of consolidating a specific structure for pediatric research. It is mainly made up of pediatric professionals with an interest in developing projects based on hypotheses arising from daily clinical care practice. Membership and close collaboration with various scientific societies favor the creation of work networks and participation in multicenter studies at a national and international level.
Likewise, as a reference center for Prader-Willi syndrome (PWS), the group promotes the dissemination of knowledge and evidence generated from the healthcare experience accumulated in the care of these patients.
Another prominent line focuses on research into type 1 diabetes mellitus, with the aim of improving the quality of life of children and adolescents, both through the application of new technologies in the management of the disease and through immunological studies at the time of diagnosis.
The group also conducts research in the field of growth and developmental disorders, including precocious puberty, thelarchia, endocrine disruptors and short stature, with participation in pharmacovigilance studies and clinical trials related to growth hormone treatment.
In addition to its main strategic lines, the research team promotes projects in other pediatric areas, such as pediatric emergency nursing, neonatology and childhood and adolescent inflammatory bowel disease.
Lines of research
- Prader-Willi syndrome and other causes of childhood obesity.
- Diabetes mellitus 1.
- Feverish infant.
- Autoinflammatory and systemic autoimmune diseases
- Growth and development disorders: precocious puberty, telerchia and disruptors, short stature.
Composition of the group
Raquel Corripio Collado (Group leader)
Doctoral research staff
- Alvarez Garcia, Natalia
- Sánchez Manubens, Judith
- Velasco Zúñiga, Roberto
PhD
- Cahís Vela, Núria
- Eslava Carrión, Aurora
- Núñez Garcia, Bernardo
- Vallés Cardona, Griselda
Non-doctoral research staff
- Carrasco Domingo, Anna
- By Luis Rossell, Daniel
- Domingo Puiggros, Monica
- Herruzo Pino, Paula
- Jiménez Gómez, Javier
- Perea Duran, Granada
- Perez Sanchez, Jacobo
- Ranera Málaga, Adrián
- Ruiz Gomez, Margarita
- Sanchez Molina, Carmen Maria
- Santiago Martínez, Session
- Monmany Tower, Núria
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 (group co-leader) ORCID
Ana Roche Martinez (group co-leader) ORCID
Doctoral research staff
- Baena Díez, Neus
- Brunet Vega, Anna
- Play Elvira, Lorraine
- Martínez González, Víctor Manuel
- Moraleda Cibrian, Marta
- Trujillo Quintero, Juan Pablo
- Spataro, Nino
Predoctoral
- Meek Bazus, Carmen
- Mir Parramón, Marina
- Zapata Aldana, Eugenio
Associated professionals
- Ruiz Elena, Pablo Andres
Non-doctoral research staff
- Ala Lozano, Shirin
- Capdevila Atienza, Nuria
- Escofet Soteras, Concepción
- Gabau Vila, Elisabeth
- García Besteiro, Maria
- Gelman Bagaria, Anna
- Gual Sánchez, Maria
- Petanàs Argemí, Joan
- Ramírez Mallafré, Ariadna
- Rubio Roy, Marta
- Torrents Fenoy, Carme
Group A5G5 – Cystic Fibrosis and Pediatric Pneumology
Accreditation level: Consolidated group
GRE 2021 SGR 01307
The group's research lines are aimed at studying the pathophysiology of inflammation in patients with cystic fibrosis (CF), mainly in relation to pulmonary inflammation and its systemic manifestations.
The main challenge in the coming years is to address the pathology associated with CF from a broad, comprehensive, multidisciplinary, humanized and patient-centered perspective. Within this framework, strategies are promoted that allow treatments to be adapted to individual needs and optimize the clinical monitoring of these patients.
The research team is multidisciplinary and is made up of professionals with diverse profiles, which favors the development of cross-disciplinary and highly specialized clinical research projects.
Lines of research
- Assessment of inflammation and treatment of people with cystic fibrosis.
- Mechanisms and induction of tolerance to allergens: Oral immunotherapy to foods and aeroallergens
- Diagnosis and treatment of people with severe asthma and their comorbidities.
Composition of the group
Laura Valdesoiro Navarrete (Group Leader) | ORCID
Doctoral research staff
- Pineda Solas, Valentí
- Valiente Planas, Andrea
Predoctoral
- Baucells de la Peña, Andrés
- García González, Miguel
- Valls Llovera, Alba
Non-doctoral research staff
- Asensio de la Cruz, Óscar
- Notary Tembleque, Raquel
- García Tirado, Diana
- Susanna Calero, Marta