Minority Diseases

  • About the area
  • Groups

The area of ​​Minority Diseases is aimed at researching and advancing those groups of diseases in which the Parc Taulí Health Corporation is a reference center for the diagnosis and treatment of them.

It is made up of four research groups formed by professionals who are characterized by their multidisciplinarity and cohesion, with an important course of joint work: biologists, geneticists, pediatricians, physiotherapists, clinical psychologists and nurses, whose objective is to improve their knowledge 'these diseases based on basic research and applied to the clinic.

Area coordination
Montserrat Bosque Garcia

mbosque@tauli.cat

Group A5G2 - Growth and developmental 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.

Areas of research

  • Growth hormone in patients with Prader-Willi syndrome (SPW) younger than 2 years.
  • National Register of Early Puberty Central PUBERE.
  • Growth hormone: pharmacovigilance, initial weekly GH trial in 2018.
  • Salivary cortisol in adrenal insufficiency.
  • Pelvic ultrasound: Obtaining reference values ​​for uterine and ovarian length in healthy girls aged 6 to 10 years.
  • Hormonal disruptors and telarky.
  • Quality of life in the child with type 1 diabetes mellitus.

Composition of the group

  • Raquel Corripio Collado (Group leader)
  • Victoria Aldecoa Bilbao
  • Elisenda Busquets Casso
  • Mònica Domingo Puiggrós
  • Carmina Duran Feliubadaló
  • Sergio Infante García
  • Inés Loverdos Echevarri
  • Mª Mar Marcos Mouse
  • Granada Perea Duran
  • Jacobo Pérez Sánchez
  • Montserrat Selvas Martínez
  • Mª Luisa Villalobos Gálvez

Group A5G3 - Intellectual disability associated with psychiatric disorders of genetic origin and Angelman's syndrome

Accreditation level: Popup group

Areas of research

  • Identification of new candidate genes responsible for Angelman's syndrome and development of a new diagnostic tool.
  • Genotypes and sleep patterns in children with a genetic diagnosis of Angelman Syndrome.
  • Study of the pathogenicity of a new region 7q31 associated with psychiatric disorder and intellectual disability.

Composition of the group

  • Miriam Guitart Feliubadaló (Group leader)
  • Cintia Aguilera Roman
  • Snows Baena Ten
  • Carme Brun Gasca
  • Núria Capdevila Atienza
  • Veronica Delgadillo Chilavert
  • Conception Escofet Soteras
  • Elisabeth Gabau Vila
  • Marta Moraleda Cibrian
  • Ariadna Ramírez Mallafré
  • Núria Ribas Vidal
  • Anna Ruiz Nel·lo

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

Accreditation level: Popup group

Areas of research

  • Definition of a cognitive-behavioral phenotype in girls with CFS and detection of adaptive disorders at school level in girls with CFS.
  • Study of sleep disorder in SXF:
    • Study the differences between boys and girls and evaluate psychological (story, comic) vs pharmacological response.
    • Study of the relationship of eating disorder in SXF with a compulsive / repetitive component.

Composition of the group

  • Ana Roche Martínez (Group leader)
  • M. Jesús García Catalan
  • Katy Garcia Nonell
  • Lorena Joga Elvira
  • Laura Moreno Puerto
  • Eugenia Rigau Ratera
  • Montserrat Torras Tomorrow

Group A5G5 - Cystic Fibrosis

Accreditation level: Popup group

Areas of research

  • Results evaluation of Vitamin D in CF patients.
  • Efficacy and safety of a cluster guideline in children with respiratory mite allergy.
  • Efficacy of Omalizumab in children with severe asthma.
  • Valuation of a platform for elastase evaluation in CF patients.
  • Cystagon as an agent to increase CFTR function.

Composition of the group

  • Montserrat Bosque García (Group Leader)
  • Oscar Asensio de la Cruz
  • Roser Ayats Vidal
  • Joan Badia Barnusell
  • Maria Cols
  • Snows Combalia Soriano
  • Jordi Costa Colomer
  • Miguel García González
  • Isabel Gascon Casaredi
  • Núria López Galbany
  • Belén López García
  • Olga Millan Portillo
  • Valentí Pineda Solas
  • Núria Rudi Solà
  • Boris Salguero
  • Juan Trujillo Wurtelle
  • Laura Valdesoiro Navarrete
  • Andrea Valiente Flatas
  • Amalui Vásqez
  • Mireia Vilella