Genomics for the diagnosis of rare diseases

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SJD Barcelona Children's Hospital

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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

  1. Rett syndrome, genetic bases and molecular footprint (IP: Judith Armstrong)
  2. Application and management of genomics and big data techniques for diagnosis (IP: Delia Yubero and Judith Armstrong)

Scientific objectives

  1. Transformation of clinical diagnosis into molecular genetic diagnosis.
  2. Delopment of new multiomic analyses based on NGS technology that allow us to make an accurate genetic diagnosis.
  3. 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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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
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