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 who are characterized by their multidisciplinarity and cohesion, with an important course of joint work: biologists, geneticists, paediatricians, physiotherapists, clinical psychologists and nurses, who share the goal of improving knowledge of 'these diseases from basic research and applied to the clinic.

Area coordination
Raquel Corripio Collado

rcorripio@tauli.cat

Group A5G2 - Growth and development disorders

Accreditation level: Popup group

Our group is 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 assumptions that arise in the day care clinic. Membership in different scientific societies generates networks that allow us to participate in national and international multicenter collaborative studies. On the other hand, being a reference center for 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.

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 obesity.
  • Growth and Developmental Disorders: Early puberty, telarche and disruptive, low stature.

Composition of the group

Raquel Corripio Collado (Group leader)

Doctoral research staff

  • Sánchez Manubens, Judith

Non-doctoral research staff

  • Cahís Vela, Núria
  • Domingo Puiggros, Mònica
  • León Carrillo, Beatriz
  • Loverdos Echevarri, Inés
  • Perea Duran, Granada
  • Pérez Sánchez, Jacobo

Support professionals

  • Infante García, Sergio
  • Pons Pous, Joan

Group A5G3 - Intellectual disability and psychiatric disorders of genetic origin

Accreditation level: Popup group

Intellectual disability of genetic origin has been a priority in our healthcare and research activity for 30 years. In 1997, the Parc Taulí Health Corporation implemented the Genetically Based Cognitive and Behavioral Disorders Care Unit, which provides multidisciplinary care (neurologists, clinical geneticists, genetic biologists, endocrinologists, psychologists and psychiatrists) to patients with minority syndromes. genetic basis. In particular Angelman Syndrome which are related to Spanish and Catalan Association of Angelman Syndrome, has developed a protocol for comprehensive medical care and a genetic algorithm for diagnosis.

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 1) the Unit of Clinical Expertise (UEC) for the syndromes of Angelman, Prader Willi, fragile X, sexual abnormalities and intellectual disability of genetic basis (DOG, instruction 12/2015), and b) 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 Nel·lo (Group leader)

Doctoral research staff

  • Baena Díez, Neus
  • Guitart Feliubadaló, Míriam
  • Trujillo Quintero, Juan Pablo
  • Spataro, Nino

Predoctoral

  • Manso Bazus, Carmen

Non-doctoral research staff

  • Capdevila Atienza, Nuria
  • Escofet Soteras, Concepción
  • Itzep Pérez, Debora Coritza
  • Ramírez Mallafré, Ariadna
  • Olivé Cirera, Gemma

Associated professionals

  • Ruiz Elena, Pablo Andrés

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 fragile X, its inheritance and prevention, and the diseases associated with this syndrome. We have a multidisciplinary team (neuropediatricians, neuropsychologists, psychiatrists, molecular and molecular geneticists and gynecologists, among others) dedicated to both care and research. You also have the support of the professionals of the Genetic-Based Cognitive-Behavioral Disorder 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 Martínez (Group leader)

Predoctoral

  • Play Elvira, Lorraine

Non-doctoral research staff

  • García Catalan, M. Jesús

Group A5G5 - Cystic Fibrosis (CF)

Accreditation level: Consolidated group

Our lines are focused on the pathophysiology of inflammation with CF patients, mainly focused on pulmonary inflammation and at the systemic level. Our challenge over the next few years is to approach the study of patient-associated pathology from a broad, comprehensive, multidisciplinary, humanized and patient-centered perspective and to favor strategies that allow us to tailor treatments to our particular needs. and at 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 CF.
  • Efficacy and tolerance of targeted therapies in the control of Asthma and Renitis.
  • Therapeutic measures aimed at desensitizing food allergy.

Composition of the group

Laura Valdesoiro Navarrete (Group Leader)

Doctoral research staff

  • Pineda Solas, Valentí

Predoctoral

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

Non-doctoral research staff

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