Genomics for the diagnosis of rare diseases
Research Program
Leaders
Where we are
SJD Barcelona Children's Hospital
Related websites
SJD Barcelona Children's Hospital The Genomics for the Diagnosis of Rare Diseases Group focuses on genomic tools and their potential for diagnosis, specifically in the context of neurological diseases, but also for other rare diseases of genetic origin. Since 2013, NGS technology has been introduced in our hospital for the detection of mutations that cause neurological pathology, and this experience has been extended to include the other specialties treated at our centre. Specifically, this technological knowledge, as well as knowledge in the field of neurological and other diseases, led to the creation of our research group, which developed from the Rett Syndrome Research Group. The RTT group at SJD Barcelona Children's Hospital has a history of more than 30 years of experience, from both the clinical and genetic standpoints, registering more than 500 cases of RTT patients with a confirmed clinical and genetic diagnosis.
We are part of the Consolidated Research Group in Paediatric Neurosciences - NeuroPed (SRG 2017-2019): 2017SGR 0108 and the CIBERER U-703 group.
Research lines
- Rett syndrome, genetic bases and molecular footprint (IP: Judith Armstrong)
- Application and management of genomics and big data techniques for diagnosis (IP: Delia Yubero and Judith Armstrong)
Scientific objectives
- Transformation of clinical diagnosis into molecular genetic diagnosis.
- Delopment of new multiomic analyses based on NGS technology that allow us to make an accurate genetic diagnosis.
- Study of the genetic landscape of rare pathologies, as genes involved in various neurological phenotypes may be related through genetic networks and similar functional pathways.
Area/Field of expertise
The RTT research line has focused on detecting patient mutations in disease-related genes as well as on finding new genes, improving detection techniques and locating new target tissues for molecular diagnosis. With the growth of the Healthcare Genomics Laboratory, multiple diagnostic techniques have been developed: NGS (WES, CES, transcriptomics), Sanger sequencing, MLPA, PCRq and others, in order to further develop various diagnostic tools and integrate them in the research and molecular diagnosis of neurodevelopmental diseases beyond the scope of RTT.
The introduction of NGS allows us to develop technologies and data analysis protocols to detect genomic variants that cause the patient's pathology: detection of variants from transcriptomics, development of analysis and detection of SNV variants and CNV from complete genomes, detection of variants using DNAseq-RNAseq binding, detection of variants in mtDNA, and detection of germ mosaicisms in patients and progenitors in neurological pathology.
Group members
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Investigador
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Investigador
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Técnico
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Investigador pre-doc
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Investigador pre-doc
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Jefe de Grupo
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Técnico
Last Publications
- 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.
- Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS . 101(5-6): 481-493.
- Siqueira E, Obiols-Guardia A, Jorge-Torres OC, Oliveira-Mateos C, Soler M, Ramesh-Kumar D, Setién F, van Rossum D, Pascual-Alonso A, Xiol-Viñas C, Ivan C, Shimizu M, Armstrong-Moron J, Calin GA, Pasterkamp RJ, Esteller M and Guil S Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome. MOLECULAR THERAPY-NUCLEIC ACIDS . 27: 621-644.
Projects
- Project name:
- Catalan Interhospital Network of Genetic Variants to Improve Genetic Diagnosis in Rare Diseases
- Leader
- Délia Yubero Siles
- Funding entities:
- Fundació La Marató de TV3
- Code
- 590/C/2020
- Starting - finishing date:
- 2021 - 2024
- Project name:
- Estudio de pacientes dentro del Espectro Rett mediante un enfoque multiómico integrativo: delucidar la huella molecular de la via funcional.
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI20/00389
- Starting - finishing date:
- 2021 - 2023
- Project name:
- Función de la proteína MeCP2: implicaciones en el síndrome duplicación MECP2 y síndrome de Rett
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Federación Española de Enfermedades Raras
- Code
- PCP00310
- Starting - finishing date:
- 2021 - 2022
News
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Institut de Recerca Sant Joan de Déu joins the european platform EBRAIN
Institut de Recerca Sant Joan de Déu (IRSJD) strengthens its european position in the neuroscience’s field and the human brain’s study with its incorporation to the EBRAINS platform. A digital research infrastructure, created by the Human Brain Project (HBP) and partly funded by the European Union, which brings together a wide range of data and tools for brain research.