Research Group on Rare Respiratory Diseases (RRD)

Metabolism and Organic Damage Area

The Group’s scientific interests, coordinated by Dr. Dasí, are focused on deepening the investigation of the molecular and cellular basis of ERRs, which will contribute to broadening the knowledge of the pathophysiological mechanisms of these diseases. This approach will open up a field of possibilities for defining new molecular targets that will be the basis for subsequent translation to new methods of diagnosis, prognosis, and treatment of these diseases. One of the main objectives is the discovery and development of new diagnostic and prognostic biomarkers in biological fluids. As these samples require minimally invasive extraction methods, they can be easily automated and implemented in hospitals and will, therefore, be of great interest to biotechnology and pharmaceutical companies. On the other hand, the group is particularly interested in establishing and developing gene therapy techniques, intending to transfer their results relatively quickly to clinical practice. Also, as part of the group’s mission and aware of the importance of keeping patients and their families well informed, the members are committed to collaborating, organizing, and disseminating the characteristics and possible biomedical advances related to RRD.

Currently, the group maintains active basic research in two RRDs: alpha-1 antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD). The specific actions of the group are:

  1. To characterize the molecular mechanisms (especially those aspects related to REDOX regulation) involved in the development of disease in patients with AATD and PCD.
  2. To evaluate the diagnostic and/or prognostic value of circulating nucleic acids in plasma/serum.
  3. Development of cellular models from cells of patients with RRD, allowing research in these diseases:
  4. Immortalization of monocytes and hepatocytes from patients with severe AATD (ZZ genotype) and ciliated nasal epithelial cells from patients with RRD.
  5. To develop new therapeutic strategies based on gene therapy.
  6. To generate social awareness of RRDs through scientific dissemination of biomedical advances and social-health policies to improve patients’ quality of life.


Dr. Francisco Dasí Fernández
Coordinator
Dr. Francisco Dasí Fernández
francisco.dasi@uv.es  

RESEARCHERS
Leading, R4
Established, R3

Francisco Dasí Fernández    
Selene Valero Moreno

Recognised/Emerging, R2

Silvia Castillo Corullón

First Stage, R1

Álvaro Carrasco García

STAFF
Collaborating Researchers
Nurse

Carlos Martínez Ferraro

Technicians

Maksym Kupchyk Tiurin
Joaquín Carrasco Luna

Administrative assistant
Publications
Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients. Reula A, Castillo-Corullon S, Armengot M, Herrera G, Escribano A, Dasi F. Antioxidants. 2024 Feb 2;13(2):190. doi: 10.3390/antiox13020190. PMID: 38397788

Study of the emotional adjustment of the caregiver-patient dyad to bronchial asthma in adolescence. Valero-Moreno S, Montoya-Castilla I, Perez-Marin M. International Journal of Nursing Practice. 2024 Feb;30(1):e13171. doi: 10.1111/ijn.13171. PMID: 37271579

Alpha-1 antitrypsin deficiency. Dasi F. Medicina Clinica. 2023 Mar 10;160(5):203-205. doi: 10.1016/j.medcli.2022.09.001. PMID: 36253208

Alpha-1 antitrypsin deficiency. Dasi F. Medicina Clínica. 2023 Nov 21:S0025-7753(23)00648-6. doi: 10.1016/j.medcli.2023.10.014. PMID: 37993348

Compassion in Spanish-speaking health care: a systematic review. Zaragoza A, Soto-Rubio A, Lacomba-Trejo L, Valero-Moreno S, Perez-Marin M. Current Psychology. 2023;42(8):6732-6751. doi: 10.1007/s12144-021-01994-z. PMID: 34220172

Diffuse alveolar haemorrhage in children: an international multicentre study. Ring A, Schwerk N, Kiper N, Aslan A, Aurora P, Ayats R, Azevedo I, Bandeira T, Carlens J, Castillo-Corullon S, Cobanoglu N, Elnazir B, Emiralioglu N, Eyuboglu T, Fayon M, Gursoy T, Hogg C, Kotz K, Karadag B, Latalova V, Krenke K, Lange J, Manali E, Osona B, Papiris S, Proesmann M, Reix P, Roditis L, Rubak S, Rumman N, Snijders D, Stehling F, Weiss L, Yalcin E, Zirek F, Bush A, Clement A, Griese M, Buchvald F, Nathan N, Nielsen K. ERJ Open Research. 2023 Apr 24;9(2):00733-2022. doi: 10.1183/23120541.00733-2022. PMID: 37101741

Family styles and quality of life in adolescents with bronchial asthma: The important role of self-esteem and perceived threat of the disease. Valero-Moreno S, Montoya-Castilla I, Perez-Marin M. Pediatric Pulmonology. 2023 Jan;58(1):178-186. doi: 10.1002/ppul.26178. PMID: 36193795

Hypoxia enhances oxidative stress in neutrophils from ZZ Alpha-1 antitrypsin deficiency patients. Magallon M, Castillo-Corullon S, Banuls L, Pellicer D, Romero T, Martinez-Ferraro C, Navarro-Garcia M, Herrejon A, Gonzalez C, Dasi F. Antioxidants. 2023 Apr 3;12(4):872. doi: 10.3390/antiox12040872. PMID: 37107247

Overburden in caregivers of chronically ill adolescents: a comparative study between pulmonological and endocrinological diseases. Garcia-Marin E, Valero-Moreno S, Schoeps K, Postigo-Zegarra S, Perez-Marin M. Children. 2023 Nov 23;10(12):1840. doi: 10.3390/children10121840. PMID: 38136042

Quality of life in patients with asthma: Medical indicators and psychological variables. Valero-Moreno S, Montoya-Castilla I, Perez-Marin M. Journal of Pediatric Nursing. 2023 Mar-Apr;69:e136-e144. doi: 10.1016/j.pedn.2022.12.030. PMID: 36609027

Response to the letter to the editor Alpha-1 antitrypsin deficiency: impact of its relevance in hematology. Dasi F. Medicina Clinica. 2023 Oct 11:S0025-7753(23)00528-6. doi: 10.1016/j.medcli.2023.08.005. PMID: 37833107

SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge. Mondejar-Lopez P, Moreno-Galarraga L, de Manuel-Gomez C, Blitz-Castro E, Bravo-Lopez M, Gartner S, Perez-Ruiz E, Caro-Aguilera P, Sanz-Santiago V, Lopez-Neyra A, Luna-Paredes C, Garcia-Gonzalez M, Costa-Colomer J, Cols-Roig M, Delgado-Pecellin I, Castillo-Corullon S, de Valbuena-Maiz M, Garcia-Marcos P, Aguilar-Fernandez A, Martin-De Vicente C, Barajas-Sanchez M, Mesa-Medina O, Bover-Bauza C, Figuerola-Mulet J, Garcia-Aviles B, Rodriguez-Saez M, Garcia-Magan C, Juarez-Marruecos P, Gutierrez-Martinez J, Cortell-Aznar I, Gomez-Pastrana D, Velasco-Gonzalez M, Barrio M, Sanchez-Solis M, de la Cruz O, Pastor-Vivero M. Pediatric Pulmonology. 2023 Nov;58(11):3195-3205. doi: 10.1002/ppul.26644. PMID: 37589420

Benefits of a support programme for family caregivers of patients at the end of life: A randomised controlled trial. Soto Rubio A, Valero Moreno S, Perez Marin M. Journal of Health Psychology. 2022 Jan;27(1):199-210. doi: 10.1177/1359105320944993. PMID: 32772853

Cross-cultural validation of the Worries about COVID-19 and its consequences Scale (W-COV) in adolescents and young people. Monaco E, Schoeps K, Valero-Moreno S, Castro-Calvo J, Montoya-Castilla I, del Rosario C, Coello F, Herrera S, Trujillo A, Munevar F, Esparza NA. Archives of Psychiatric Nursing. 2022 Oct;40:158-166. doi: 10.1016/j.apnu.2022.07.016. PMID: 36064240

Do COVID-19 worries, resilience and emotional distress influence life satisfaction? outcomes in adolescents in Ecuador during the Pandemic: SEM vs. QCA. Herrera J, Lacomba-Trejo L, Valero-Moreno S, Montoya-Castilla I, Perez-Marin M. Children. 2022 Mar 21;9(3):439. doi: 10.3390/children9030439. PMID: 35327811

Emotional IMPACT IN ADOLESCENTS in Ecuador Six Months After The Beginning of the COVID-19 Pandemic. Coello M, Valero-Moreno S, Herrera J, Lacomba-Trejo L, Perez-Marin M. Journal of Psychology. 2022;156(5):381-394. doi: 10.1080/00223980.2022.2054921. PMID: 35482962

Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation. Mondejar-Lopez P, Zolin A, Garcia-Marcos P, Pastor-Vivero M, Rosa-Silvestre M, Sanchez-Martinez F, Salvatore D, Cimino G, Majo F, Sole-Jover A, de la Cruz O, Calderazzo M, Pizzamiglio G, Castillo-Corullon S, Alvarez-Fernandez A, Gartner S, Padoan R, Carnovale V, Salvatore M, Moya-Quiles M, Orenti A, Glover G, Sanchez-Solis M. Respiratory Medicine. 2022 Feb;192:106736. doi: 10.1016/j.rmed.2022.106736. PMID: 35032736

Incidence and prevalence of children’s diffuse lung disease in Spain. Torrent-Vernetta A, Gaboli M, Castillo-Corullon S, Mondejar-Lopez P, Santiago V, Costa-Colomer J, Osona B, Torres-Borrego J, De la Serna-Blazquez O, Alonso S, Aguilera P, De Atauri A, Soria A, Ayats R, de Vicente C, Gonzalez V, Gonzalez J, Calderin E, Pastor-Vivero M, Alvarez M, Rovira-Amigo S, Serrano I, Izquierdo A, 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. Archivos de Bronconeumologia. 2022 Jan;58(1):22-29. doi: 10.1016/j.arbres.2021.06.001. PMID: 35249699

Longitudinal analysis of adolescent adjustment: the role of attachment and emotional competence. Jimenez-Rodriguez T, De la Barrera U, Schoeps K, Valero-Moreno S, Montoya-Castilla I. Children. 2022 Nov 8;9(11):1711. doi: 10.3390/children9111711. PMID: 36360439

Perceived stress in the primary caregivers of adolescents with asthma: a cross-sectional study. Valero-Moreno S, Montoya-Castilla I, Schoeps K, Postigo-Zegarra S, Perez-Marin M. Children. 2022 Oct 25;9(11):1614. doi: 10.3390/children9111614. PMID: 36360342

Predicting health-related quality of life in Spanish adolescents with allergic rhinoconjunctivitis and bronchial asthma. Lacomba-Trejo L, Valero-Moreno S, Montoya-Castilla I, Marin M. Psychology Health & Medicine. 2022 Mar;27(3):613-625. doi: 10.1080/13548506.2021.1904514. PMID: 33759655

Psychological aspects of pre-adolescents or adolescents with precocious puberty: a systematic review. Lopez-Miralles M, Lacomba-Trejo L, Valero-Moreno S, Benavides G, Perez-Marin M. Journal of Pediatric Nursing. 2022 May-Jun;64:e61-e68. doi: 10.1016/j.pedn.2022.01.002. PMID: 35033399

Teachers’ response to stress, anxiety and depression during COVID-19 lockdown: what have we learned from the pandemic?. Lacomba-Trejo L, Schoeps K, Valero-Moreno S, Del Rosario C, Montoya-Castilla I. Journal of School Health. 2022 Sep;92(9):864-872. doi: 10.1111/josh.13192. PMID: 35610141

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN. Raidt J, Maitre B, Pennekamp P, Altenburg J, Anagnostopoulou P, Armengot M, Bloemsma L, Boon M, Borrelli M, Brinkmann F, Carr S, Carroll M, Castillo-Corullon S, Coste A, Cutrera R, Dehlink E, Destouches D, Di Cicco M, Dixon L, Emiralioglu N, Eralp E, Haarman E, Hogg C, Karadag B, Kobbernagel H, Lorent N, Mall M, Marthin J, Martinu V, Narayanan M, Ozcelik U, Peckham D, Pifferi M, Pohunek P, Polverino E, Range S, Ringshausen F, Robson E, Roehmel J, Rovira-Amigo S, Santamaria F, Schlegtendal A, Szepfalusi Z, Tempels P, Thouvenin G, Ullmann N, Walker W, Wetzke M, Yiallouros P, Omran H, Nielsen K. ERJ Open Research. 2022 Aug 15;8(3):00139-2022. doi: 10.1183/23120541.00139-2022. PMID: 35983540

The relation of CFTR-genotype and associated comorbidities to development of pulmonary atelectasis in cystic fibrosis patients. Martinez-Redondo M, Prados Sanchez C, Garcia-Rio F, Quintana Gallego E, Castillo Corullon S, Salcedo Posadas A, Giron Moreno R, Martinez Martinez M, Maiz Carro L, de Vicente C, Costa Colomer J, Alvarez-Sala Walther R. Archivos de Bronconeumologia. 2022 Sep;58(9):666-668. doi: 10.1016/j.arbres.2022.02.009. PMID: 35644710

Clinically amyopathic dermatomyositis with pulmonary involvement, exceptional pathology. Navio Anaya M, Monrabal Bernabeu A, Pons Morales S, Castillo Corullon S. Anales de Pediatria. 2021 Oct;95(4):282-283. doi: 10.1016/j.anpedi.2020.11.029. PMID: 33478851

Comparison of physical activity and sedentary behaviour between schoolchildren with cystic fibrosis and healthy controls: a gender analysis. Valencia-Peris A, Lizandra J, Moya-Mata I, Gomez-Gonzalvo F, Castillo-Corullon S, Escribano A. International Journal of Environmental Research and Public Health. 2021 May 18;18(10):5375. doi: 10.3390/ijerph18105375. PMID: 34070042

Empirically supported psychological treatments for children and adolescents: state of the art. Fonseca-Pedrero E, Perez-Alvarez M, Al-Halabi S, et al. Psicothema. 2021 Aug;33(3):386-398. doi: 10.7334/psicothema2021.56. PMID: 34297668

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia. Baz-Redon N, Rovira-Amigo S, Paramonov I, Castillo Corullon S, Cols Roig M, Antolin M, Garcia Arumi E, Torrent-Vernetta A, De Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco M, Asensio De La Cruz O, Vizmanos-Lamotte G, Martin De Vicente C, Martinez-Colls M, Reula Martin A, Escribano Montaner A, Dasí Fernández F, Armengot Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodriguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernandez-Cancio M, Moreno-Galdo A. Archivos de Bronconeumologia. 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. PMID: 32253119

Is mHealth a useful therapy for improving physical or emotional health in adolescents with cystic fibrosis? a systematic review. Valero-Moreno S, Lacomba-Trejo L, Montoya-Castilla I, Perez-Marin M. Current Psychology. 2021 Nov 24;1-14. doi: 10.1007/s12144-021-02452-6. PMID: 34840486

Methodologies for the determination of blood Alpha1 antitrypsin levels: a systematic review. Ruiz-Duque B, Banuls L, Reinoso-Arija R, Carrasco-Hernandez L, Caballero-Eraso C, Dasi F, Lopez-Campos JL. Journal of Clinical Medicine. 2021 Oct 31;10(21):5132. doi: 10.3390/jcm10215132. PMID: 34768650

New laboratory protocol to determine the oxidative stress profile of human nasal epithelial cells using flow cytometry. Reula A, Pellicer D, Castillo S, Magallon M, Armengot M, Herrera G, O’Connor J, Banuls L, Navarro-Garcia M, Escribano A, Dasi F. Journal of Clinical Medicine. 2021 Mar 11;10(6):1172. doi: 10.3390/jcm10061172. PMID: 33799667

Oxidative stress and endoplasmic reticulum stress in rare respiratory diseases. Magallon M, Carrion A, Banuls L, Pellicer D, Castillo S, Bondia S, Navarro-Garcia M, Gonzalez C, Dasi F. Journal of Clinical Medicine. 2021 Mar 18;10(6):1268. doi: 10.3390/jcm10061268. PMID: 33803835

Predictors of complicated grief in mourners of sudden cardiac death. Soto-Rubio A, Valero-Moreno S, Perez-Marin M. American Journal of Emergency Medicine. 2021 Dec;50:797-798. doi: 10.1016/j.ajem.2021.03.028. PMID: 33741200

Prevention of teratogenesis in pregnancies of obese rats by vitamin E supplementation. Alcala M, Bolado V, Sanchez-Vera I, Clapes S, Dasi F, Saez G, Carrera E, Alvarez-Gallego F, Loeken M, Viana M. Antioxidants. 2021 Jul 23;10(8):1173. doi: 10.3390/antiox10081173. PMID: 34439421

Psycho-emotional adjustment in parents of adolescents: A cross-sectional and longitudinal analysis of the impact of the COVID pandemic. Valero-Moreno S, Lacomba-Trejo L, Tamarit A, Perez-Marin M, Montoya-Castilla I. Journal of pediatric nursing. 2021;59:e44-e51. doi: 10.1016/j.pedn.2021.01.028. PMID: 33608182

Repeated aspiration pneumonia in a 7-year-old girl with undiagnosed congenital tracheoesophageal fistula. Piolatti-Luna A, Castillo-Corrullon S. Archivos de Bronconeumologia. 2021 Aug;57(8):545. doi: 10.1016/j.arbr.2021.05.015. PMID: 34147349

Projects
Reference: PI17/01250
Title: Estudio del efecto de la hipoxia en la degranulación, producción de citoquinas y perfil oxidativo de neutrófilos de pacientes con déficit de alfa-1 antitripsina
Funding body: Instituto de Salud Carlos III – Cofinanciado FEDER
Principal Investigator: Francisco Dasí Fernández
Duration: 2018 – 2021
Total budget: 99.220 €
Reference: COST Action CA16125
Title: European network for translational research in children’s and adult interstitial lung disease
Funding body: European Commission. FP7 Marie Curie Actions
Principal Investigator: Antonio Moreno
Duration: 2016 – 2019
Total budget:
+ Info
Title: El estrés en los profesionales sociosanitarios de atención a personas con discapacidad intelectual: factores de riesgo y protección
Doctoral candidate: Martínez Cuevas, Ana
Director(s): Valero Moreno, Selene; Pérez Marín, Mª Antonia
Date of the defense: 12/06/2023
University: University de Valencia

Title: Efecto de la hipoxia en la degranulación, producción de citoquinas y perfil oxidativo de neutrófilos en pacientes con déficit de alfa-1 antitripsina
Doctoral candidate: Magallón Serrano, María
Director(s): Dasí Fernández, Francisco
Date of the defense: 01/12/2022
University: Universitat de València

Title: Estudio de la utilidad clínica de los microarns en suero y orina de pacientes con cáncer de vejiga
Doctoral candidate: Castelló Porcar, Ana María
Director(s): Dasi Fernandez, Francisco Jose; Martínez Jabaloyas, Jose M
Date of the defense: 27/10/2022
University: Universitat de València

Title: Edición génica del gen serpina1 mediante el uso de CRISPR/CAS9 en células sanguíneas de pacientes con déficit de alfa-1 antitripsina
Doctoral candidate: Bañuls Soto, Lucía
Director(s): Dasí Fernández, Francisco; Escribano Montaner, Amparo; Martí Pérez, Salvador
Date of the defense: 20/05/2022
University: Universitat de València

Title: Valor pronóstico del estudio del perfil de miRNAs en la Neumonía Adquirida en la Comunidad
Doctoral candidate: Vicente Ferrer, Silvia
Director(s): Fernández Fabrellas, Estrella; Sanz Herrero, Francisco; Dasí Fernández, Francisco Jose
Date of the defense: 07/05/2021
University: Universitat de València

Title: Repercusiones psicológicas de la enfermedad respiratoria crónica pediátrica en los pacientes y en sus cuidadores
Doctoral candidate: Valero Moreno, Selene
Director(s): Pérez Marín, Mª Antonia; Montoya Castilla, Inmaculada
Date of the defense: 08/02/2021
University: Universitat de València