Whole exome-sequencing of patients with Erdheim-Chester disease
Baquero-Perez, D.,1* Jaspez, D.,2 González-Montelongo, R.,2 Rodriguez-Garcia, N.,2 Muñoz-Barrera, A.,2 Rubio-Rodriguez, L.A.,2 Lorenzo-Salazar, J.M.,2 Acosta-Herrera, M.,3 Martin, K.,3 Martinez-Lopez, J.,3 Pegoraro, F.,4 Papo, M.,5 Haroche, J.,5 Vaglio, A.,4 Martin, J.,3 Flores, C.1,2,6
1Research Unit, Hospital Universitario Ntra. Sra. de Candelaria, Instituto de Investigación Sanitaria de Canarias, Spain
2Genomics Division, Instituto Tecnológico y de Energías Renovables, Santa Cruz de Tenerife, Spain
3Institute of Parasitology and Biomedicine López-Neyra, Consejo Superior de Investigaciones Científicas, Spain.
4University of Florence and Meyer Children’s Hospital Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Italy.
5Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Service de Médecine Interne and Centre National de Référence Maladies Systémiques Rares et Histiocytoses, Hôpital Pitié-Salpêtrière, Centre d’immunologie et des maladies infectieuses INSERM UMRS1135, France
6CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain
A nanopore sequencing-based SNP panel for DNA sample traceability
Baquero-Perez, D.,1,* Jaspez, D.,2 Ciuffreda, L.,1 Corrales, A.,1,6 González-Montelongo, R.,2 Rodriguez-Garcia, N.,2 Muñoz-Barrera, A.,2 Rubio-Rodriguez, L.A.,2 Lorenzo-Salazar, J.M.,2 Sobrino, B.,3 Carracedo, A.,3,4,5 Flores, C.1,2,6
1Research Unit, Hospital Universitario Ntra. Sra. de Candelaria, Instituto de Investigación Sanitaria de Canarias, Spain.
2Genomics Division, Instituto Tecnológico y de Energías Renovables, Spain.
3Fundación Pública Galega de Medicina Xenómica, Servicio Galego de Saúde (SERGAS), Spain.
4Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela (USC), Spain.
5CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
6CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Spain.
Identification of DNA methylation markers of asthma in the Canary Islands
Martin-Almeida.M.1*, Perez-Garcia.J.1,2, Martin-Gonzalez.E.1, Lorenzo-Diaz.F.1, Poza-Guedes.P.3, Sánchez-Machín.I.3, Mederos-Luis.E.3, Hernández-Pérez.J. M.4,5, Villar.J.6,7,8,9, González-Pérez.R.3, Pino-Yanes.M.1,6,10
1Universidad de La Laguna (ULL), Spain.
2Stanford University, USA.
3Hospital Universitario de Canarias, Spain.
4Hospital Universitario de N.S de Candelaria, Spain.
5Hospital Universitario de La Palma, Spain.
6Instituto de Salud Carlos III, Spain.
7Hospital Universitario Dr. Negrín, Spain.
8Universidad del Atlántico Medio, Spain.
9Li Ka Shing Knowledge Institute at St Michael’s Hospital, Canada.
10Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna (ULL), Spain.
Evaluation of asthma polygenic risk scores in the Canarian population
Martin-Almeida.M.1*, Perez-Garcia.J.1,2, Martin-Gonzalez.E.1, Lorenzo-Diaz.F.1, Poza-Guedes.P.3, Sánchez-Machín.I.3, Hernández-Pérez.J. M.4,5, Mederos-Luis.E.3, Villar.J.6,7,8,9, González-Pérez.R.3, Pino-Yanes.M.1,10
1Universidad de La Laguna (ULL), Spain.
2Stanford University, USA.
3Hospital Universitario de Canarias, Spain.
4Hospital Universitario de N.S de Candelaria, Spain.
5Hospital Universitario de La Palma, Spain.
6CIBERES, Instituto de Salud Carlos III, Spain.
7Hospital Universitario Dr. Negrín, Spain.
8Universidad del Atlántico Medio, Spain.
9Li Ka Shing Knowledge Institute at St Michael’s Hospital, Canada.
10Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna (ULL), Spain.
Transcriptomic analysis of the effect of sex on asthma in airway epithelial cells
García E. L.,1,* Castillo-Vargas.E.,1 Pino-Yanes M, 1,2,3 Lorenzo-Diaz F 1,4
1 Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain.
2 CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
3 Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna (ULL), La Laguna, Spain.
4 Institute of Tropical Diseases and Public Health of the Canary Islands, University of La Laguna (ULL), La Laguna, Spain.
Association of the blood epigenome with the upper airway microbiome involved in asthma exacerbations
Castillo‑Vargas, E.1,*, Martin‑Almeida, M.1, Martin‑Gonzalez, E.1, González‑Pérez, R.2, Hernández‑Pérez, J. M.3,4, Sardón‑Prado, O.5,6, Poza‑Guedes, P.2, Mederos‑Luis, E.7, Corcuera‑Elosegui, P.5, Sánchez‑Machín, I.7, López‑Fernández, L.5, Villar, J.8,9,10,11, Cardenas, A.12, Lorenzo‑Diaz, F.1, Pino‑Yanes, M.1,8,13, Perez‑Garcia, J1,12
1 Universidad de La Laguna (ULL), Spain.
2 Severe Asthma Unit, HospitalUniversitario de Canarias, Spain.
3 Hospital Universitario de N.S de Candelaria, Spain.
4 Hospital Universitario de La Palma, Spain.
5 Hospital Universitario Donostia, Spain.
6 University of the Basque Country (UPV/EHU), Spain.
7 Allergy Department, Hospital Universitario de Canarias, Spain.
8 Instituto de Salud Carlos III, Spain.
9 Hospital Universitario Dr. Negrín, Spain.
10 Universidad del Atlántico Medio, Spain.
11 Li Ka Shing Knowledge Institute at the St. Michael’s Hospital, Canada.
12 Stanford University, USA.
13 Instituto de Tecnologías Biomédicas (ITB), Spain.
Combined Impact of Saharan Dust Exposure and SERPINA1 Gene Variants on the Airway Microbiome in Asthmatic Patients
Escuela-Escobar, A.,1,2* Pérez-García, J.,1 Martín-González, E., 1 González Martín, C., 2 Hernández-Pérez, J.M., 3 González Pérez, R., 4 Sánchez Machín, I., 4 Poza Guedes, P., 4 Mederos-Luis, E., 4 Pino-Yanes, M.,1,5,6 Lorenzo-Díaz, F.,1,2 Pérez Pérez, J.A. ,1,2 González Carracedo, M.A.,1,2
1 Genomics and Health Group, Dept. of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain.
2 Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), ULL, Tenerife, Spain.
3 Pulmonology Unit, Hospital Universitario N.S. de Candelaria (HUNSC), Tenerife, Spain.
4 Allergy Department, Complejo Hospitalario Universitario de Canarias (HUC), Tenerife, Spain.
5 CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
6 Instituto de Tecnologías Biomédicas (ITB), ULL, Tenerife, Spain.
Epigenome-Wide Association Study of Asthma Exacerbations: A Multi-Ancestry Approach
Elena Martin-Gonzalez*,1, Javier Perez-Garcia1,2, Mario Martin-Almeida1, Jonathan Witonsky3, Celeste Eng3, Scott Huntsman3, Donglei Hu3, Fabian Lorenzo-Diaz1,4, Ruperto González-Pérez5,6, José M. Hernández-Pérez7,8, Paloma Poza-Guedes5,6, Olaia Sardón-Prado9,10, Inmaculada Sánchez-Machín5, Elena Mederos-Luis5, Paula Corcuera-Elosegui9, Jesús Villar11-14, Michael A. Lenoir15, Jose Rodriguez-Santana16, Elad Ziv3, Esteban G Burchard3, Maria Pino-Yanes1,11,17
1Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology, and Genetics, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain.
2Department of Epidemiology and Population Health, Stanford University, Stanford, USA.
3Department of Medicine, University of California, San Francisco, California, USA.
4Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain.
5Allergy Department, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.
6Severe Asthma Unit, Allergy Department, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain.
7Department of Respiratory Medicine, Hospital Universitario de N.S de Candelaria, Santa Cruz de Tenerife, Spain.
8Respiratory Medicine, Hospital Universitario de La Palma, Santa Cruz de Tenerife, Spain.
9Division of Pediatric Respiratory Medicine, Hospital Universitario Donostia, San Sebastián, Spain.
10Department of Pediatrics, University of the Basque Country (UPV/EHU), San Sebastián, Spain.
11CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.
12Research Unit at Hospital Universitario Dr. Negrín, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Las Palmas, Spain.
13Faculty of Health Sciences, Universidad del Atlántico Medio, Tafira Baja, Las Palmas, Spain.
14Li Ka Shing Knowledge Institute at St Michael’s Hospital, Toronto, Canada.
15Bay Area Pediatrics, Oakland, California, USA.
16Centro de Neumología Pediátrica, San Juan, Puerto Rico, USA.
17Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Tenerife, Spain.
Estimation of recombination frequency associated with a hotspot in the SERPINA1 gene.
González-García D.,1,* Escuela-Escobar A.,1 Pérez-Pérez J.A.,1 González-Carracedo M.1
1 From the Genetics Laboratory, Institute of Tropical Diseases and Public Health of the Canary Islands, and the Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna, Tenerife, Spain.
Regulation of gene expression in Primary Hyperoxaluria, a rare disease, especially relevant in the Canary Islands
Milosevic, S.,1,* Salido, E.,2
1 University of La Laguna, Spain
2 Hospital Universitario de Canarias, Spain