Délia Yubero Siles
Application and management of genomics and big data techniques for diagnosis
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.
Her scientific interest and experience is focused on those rare diseases of genetic origin caused by mitochondrial dysfunction, whose origin can be found in genes of the nuclear or mitochondrial genome. Also, they have recently been awarded a research project that tries to create an inter-hospital network of genomic variants using Beacon technology, with the aim of sharing knowledge and creating common standards at the territorial level. Both the development of new biomarkers that help and guide the diagnosis, as well as the application and sharing of new technologies in the field of genomics has been and continues to be one of the key objectives of our research, oriented to the patient through collaboration and multidisciplinary intercommunication of various professionals.
- Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.
- Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. GENES . 12(10): 1590.
- Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness. PARKINSONISM & RELATED DISORDERS . 91: 19-22.
- 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