We are a multidisciplinary group of pediatricians and biologists dedicated to clinical and translational research in rare respiratory and endocrine pediatric diseases and common ones such as growth, asthma and allergic diseases, neonatal problems, and diagnostic imaging. We are part of the European rare diseases network (Endo-ERN, ERN LUNG) and CIBERER. In 2022 we have published the epidemiology of pediatric interstitial lung diseases, the genetic basis of pulmonary hypertension in children, and the evolution of lung function in premature infants. We have described several new variants in endocrinologic rare diseases and the docosahexaenoic acid and lipid profile in preterm infants. We have collaborated in developing new therapies for Cystic fibrosis (CFTR modulators) and type 1 diabetes mellitus. We have collaborated on several guidelines, such as transition in allergic diseases, achondroplasia and transexual, transgender and gender diverse minors.

Group Leader
Antonio Moreno Galdó

Principal Investigator (PI)
Diego Yeste Fernández, Núria Camats Tarruella, Silvia Gartner, Sandra Rovira Amigo, Ana Díez Izquierdo, Félix Castillo Salinas, Inés de Mir Messa, Josefa Elida Vázquez Méndez, Mª Teresa Garriga Baraut, Maria Clemente León

Researchers
Alba Torrent Vernetta, Mónica Fernández Cancio, Noelia Baz Redón, Ariadna Campos Martorell, Eduard Mogas Viñals, Ignacio Iglesias Serrano, Laura Garriga Grimau, Alba García Moral

PhD Students
Pamela Patricia Yesquen Salcedo

Nursing and Technical Staff
Maria Carmen Soto Pérez, Maria Morillo Soriano

36

PUBLICATIONS

44.4%

%Q1

201

IMPACT FACTOR

5.59

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Torrent-Vernetta A, Gaboli M, Castillo-Corullon S, Mondejar-Lopez P, Sanz Santiago V, Costa-Colomer J, Osona B, Torres-Borrego J, de la Serna-Blazquez, Bellon Alonso S, Caro Aguilera P, Gimeno-Diaz de Ataur, Valenzuela Soria A, Ayats R, Martin de Vicente C, Velasco Gonzalez V, Moure Gonzalez JD, Canino Calderin EM, Pastor-Vivero MD, Villar Alvarez MA, Rovira-Amigo S, Iglesias Serrano I, Diez Izquierdo A, de Mir Messa I, Gartner S, Navarro A, Baz-Redon N, Carmona R, Camats-Tarruella N, Fernandez-Cancio M, Rapp C, Dopazo J, Griese M, Moreno-Galdo A
Incidence and Prevalence of Children’s Diffuse Lung Disease in Spain
Arch Bronconeumol. 2022 Jan;58(1):22-29
DOI: doi: 10.1016/j.arbres.2021.06.001
IF: 6.333

de-Mir-Messa I, Sardon-Prado O, Sanchez-Solis M, Corcuera-Elosegui P, Korta-Murua J, Perez-Fernandez V, Caballero-Rabasco A, Hoo AF, Perez-Yarza EG, Moreno-Galdo A
Development of Lung Function in Preterm Infants During the First Two Years of Life
Arch Bronconeumol. 2022 Mar;58(3):237-245
DOI: doi: 10.1016/j.arbres.2021.07.007
IF: 6.333

Mall MA, Brugha R, Gartner S, Legg J, Moeller A, Mondejar-Lopez P, Prais D, Pressler T, Ratjen F, Reix P, Robinson PD, Selvadurai H, Stehling F, Ahluwalia N, Arteaga-Solis E, Bruinsma BG, Jennings M, Moskowitz SM, Noel S, Tian S, Weinstock TG, Wu P, Wainwright CE, Davies JC
Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 Through 11 Years of Age with Cystic Fibrosis Heterozygous for F508del and a Minimal Function Mutation: A Phase 3B, Randomized, Placebo-Controlled Study.
Am J Respir Crit Care Med. 2022 Dec 1;206(11):1361-1369.
DOI: doi: 10.1164/rccm.202202-0392OC
IF: 30.528

Baz-Redon N, Soler-Colomer L, Fernandez-Cancio M, Benito-Sanz S, Garrido M, Moline T, Clemente M, Camats-Tarruella N, Yeste D
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
Front Endocrinol (Lausanne). 2022 Oct 11;13:957969
DOI: doi: 10.3389/fendo.2022.957969
IF: 6.055

Castillo Salinas F, Montaner Ramon A, Castillo Ferrer FJ, Domingo-Carnice A, Cordobilla B, Domingo JC
Erythrocyte Membrane Docosahexaenoic Acid (DHA) and Lipid Profile in Preterm Infants at Birth and Over the First Month of Life: A Comparative Study with Infants at Term
Nutrients. 2022 Nov 22;14(23):4956
DOI: doi: 10.3390/nu14234956
IF: 6.706

Primary ciliary dyskinesia in adult bronchiectasis. Diagnostic strategy based on next generation sequencing gene panel analysis.
Principal Investigator: Antonio Moreno Galdó
Agency: Instituto de Salud Carlos III
Funding: 134,915 €
Period: 2021-2023

Functional studies of genetic variants in patients with congenital hyperinsulinism
Principal Investigator: Núria Camats Tarruella
Agency: Fundación Sociedad Española Endocrinología.Pediatrica
Funding: 10,000 €
Period: 2022-2023

Family diagnosis of Primary Ciliary Dyskinesia and Retinitis Pigmentosa due to variants in the RPGR gene
Principal Investigator: Núria Camats Tarruella
Agency: CIBERER. Acciones Cooperativas y Complementarias Intramurales (ACCI)
Funding: 28,000 €
Period: 2022-2023

Improving diagnosis of primary ciliary dyskinesia
Principal Investigator: Antonio Moreno Galdó
Agency: Fundación Asociación Española de Pediatría
Funding: 25,500 €
Period: 2021-2023

Determination of the usefulness of the electronic nose as a tool for monitoring and early detection of exacerbations in pediatric patients (4-18 years) with respiratory disease. PINOCCHIO project
Principal Investigator: Ana Díez Izquierdo
Agency: SEICAP. Sociedad Española de Inmunología Clínica y Asma Pediátrico
Funding: 10,000 €
Period: 2020-2023