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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Ayudante de investigación
Last Publications
- Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases EUROPEAN JOURNAL OF HUMAN GENETICS . : .
- Beatriz Mínguez Rodríguez, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia ANTIOXIDANTS . 13(8): .
- Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C New variants expand the neurological phenotype of COQ7 deficiency JOURNAL OF INHERITED METABOLIC DISEASE . : .
Projects
- Project name:
- Identificación de biomarcadores y dianas terapéuticas a través del análisis integrado de multiómica de la huella molecular del síndrome de Rett y trastornos del neurodesarrollo.
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Armstrong Morón, Judith Silvia, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PI23/00108
- Starting - finishing date:
- 2024 - 2026
- Project name:
- Estudio de validación de dianas terapéuticas en muestra cerebral y sangre periférica de pacientes con síndrome de Rett
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Fundación Noelia. Niños Contra la Distrofia Muscular Congénita por Déficit de Colágeno VI, FUNDACIÓN ADEY
- Code
- PFNR0185
- Starting - finishing date:
- 2023 - 2027
- Project name:
- Cómo dirige el gen MECP2 la expresión génica: varones Rett y varones con duplicación MECP2
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Associació Muevete por los que no pueden
- Code
- PCP00374
- Starting - finishing date:
- 2023 - 2024
Theses
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Comprehensive analysis of diagnostic approaches and molecular landscape of Rett syndrome spectrum disorders
- Author
- Xiol Viñas, Clara
- Institution
- UNIVERSIDAD DE BARCELONA
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Study of expression levels in MECP2 related disorders using transcriptomics and proteomics: characterizing Rett syndrome and MECP2 duplication syndrome.
- Author
- Pascual Alonso, Ainhoa
- Institution
- UNIVERSIDAD DE BARCELONA
News
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Research in Pitt-Hopkins at Sant Joan de Déu, a neurodevelopmental disorder
Dr. Judith Armstrong initiates a project to understand why patients with mutations in different genes present the same clinical features as Rett syndrome.
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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.
More activities
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Defensa tesi doctoral: Clara Xiol Viñas
Aula de Graus, Edifici Durfort, Facultat de Biologia (UB) · Online