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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 developmental disorders

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
Jiménez Gómez, Javier
Leon Carrillo, Beatriz
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
Eslava Carrión, Aurora
Núñez Garcia, Bernardo
Vallés Cardona, Griselda

Support professionals

Infante Garcia, Sergio
Pons Pous, Joan

Group A5G3 - Genetically based neurodevelopmental disorders

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.