Délia Yubero Siles
Délia Yubero graduated in Biology in 2011 at the University of Barcelona and completed a Master in Developmental Biology and Genetics completed in 2012 at the University of Barcelona.
His scientific career begins with the incorporation into the group of metabolic diseases led by Dr. Rafael Artuch (SJD Barcelona Children's Hospital), carrying out the doctoral thesis framed in the research project on mitochondrial pathologies, specifically on Coenzyme deficiencies Q10 in neuropediatric patients. In 2016, she obtained his Doctorate in Biology.
In 2016, he joined the Genetic and Molecular Medicine Service of the SJD Barcelona Children's Hospital, where a genomic analysis platform has been created that has the technological resources to enhance the diagnosis of patients with minority diseases.
Currently, participate as responsible for the genetic diagnosis of hereditary monogenic diseases through the use of massive sequencing techniques, covering the entire range of disciplines in which the SJD Barcelona Children's Hospital provides services, including immunology, neurology, neuromuscular disorders, nephrology, clinical genetics, endocrinology, ophthalmology, etc.
- Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274.
- Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort PEDIATRIC NEUROLOGY . 115: 50-65.
- Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome ACTA NEUROPATHOLOGICA . 140(6): 971-975.
- Project name:
- Catalan Interhospital Network of Genetic Variants to Improve Genetic Diagnosis in Rare Diseases
- Délia Yubero Siles
- Funding entities:
- Fundació La Marató de TV3
- Starting - finishing date:
- 2021 - 2024