Research Precision Medicine in Rare Diseases

Neurogenetics and Molecular Medicine

Research Program

Precision Medicine in Rare Diseases

Leaders

Where we are

SJD Barcelona Children's Hospital

How to reach us

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Our group is part of the Center for Genomic Sciences in Medicine (GenomicScientia) of the SJD Research Institute and we investigate rare neurogenetic diseases that affect the development and functioning of the central and peripheral nervous system. The approach includes genetic and genomic analysis in patient samples, and experimental biology for the study of pathophysiology and therapeutics in patient fibroblasts, and in cell and animal models of disease.

We are part of the Biomedical Research Center in the Rare Diseases Network, CIBERER, within the Pediatric and Developmental Medicine Research Program. Since 2017, the team has belonged to the consolidated research group AGAUR for Precision Medicine for Genetic and Rare Diseases (Generalitat de Catalunya, reference 2021-SGR-01610, coordinated by Dr. Francesc Palau).

In the context of GenomicScientia, we offer the "Diagnosis and Translational Therapies Program (PDTT)" whose main objective is to study genetic variants of uncertain significance found in genomic studies of pediatric patients, and which alone do not allow the diagnosis to be achieved. These studies will allow the diagnosis to be obtained in the majority of patients. Currently, the PDTT has two units with different purposes: the Precision Diagnostics Unit and the Personalized Therapies Unit.

Research lines

  1. Precision medicine, from phenotype to genotype, in neurogenetic diseases.
  2. Genes and phenotypes of parkinsonian syndromes.
  3. Genetics, neurobiology, pathophysiology and therapeutics of axonopathy associated with Charcot-Marie-Tooth and Parkinson's diseases.
  4. Basic biology of ANKK1 (ankyrin repeat and kinase domain containing 1) and pathophysiology of addictions.
  5. The connection between rare and common diseases: abnormal copper homeostasis and mitochondria as a model in Menkes disease, Wilson's disease and Parkinson's disease.
  6. Genetics, pathophysiology and therapeutics of neurodevelopmental disorders.

Scientific objectives

  1. Translational Diagnostic Programme: to investigate new genes and analyse variants in patient fibroblasts with no aetiological diagnosis.
  2. Genomics of parkinsonian syndromes: to identify new genetic markers and their relationship with phenotypes.
  3. To determine the function of membrane contact sites between organelles in the pathophysiology of neurogenetic diseases.
  4. To decipher the function of the addiction-related protein ANKK1, how it relates to the dopaminergic system and to identify clinical endophenotypes.
  5. To discover the relationship between Cu2+ and mitochondria in copper metabolism diseases.
  6. To pharmacologically screen and develop therapeutic approaches in the Gdap1 -/- mouse model of Charcot-Marie-Tooth neuropathy.
  7. To generate and implement tools for precision phenotyping, genetic analysis and pharmacological screening of diseases affecting cerebral, intellectual and behavioural development in childhood.

Area/Field of expertise

Our interest is the developing brain and its projection in pediatric precision medicine and in the biological development of people. The group carries out translational research in diagnostic and therapeutic innovation of neurological and developmental genetic disorders.

We have a specific interest in rare diseases, with a translational program on undiagnosed diseases and undiagnosed patients based on functional genomics. We are part of the "Daniel Bravo Center for Diagnosis and Research in Minority Diseases" at Sant Joan de Déu Hospital and integrate the group's research into the clinical field with the participation of biologists, geneticists, bioinformaticians, pediatricians and clinical geneticists.

Since 2018 we have established the Translational Diagnostic and Therapy Program which includes precision phenotyping, genetic and genomic analysis, and the molecular and cellular biological study of the impact of genetic variants and new genes in the disease. In addition, in the laboratory we use fibroblasts from patients and cell and animal models for pathophysiological studies aimed at understanding the primary cause of diseases, the identification of biomarkers for clinical use and molecular targets, and the development of therapeutic procedures.

Group members

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Projects

Project name:
Contratos predoctorales de formación en investigación en salud. Beneficiari: Roberta Repossi
Leader
Janet Hoenicka
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Code
FI23/00064
Starting - finishing date:
2024 - 2027
Project name:
Identificació no invasiva i precoç mitjançant espectroscòpia Raman del retinoblastoma
Leader
Mónica Roldan Molina, Maria Suñol Capella
Funding entities:
Fundació La Nineta dels Ulls
Code
PFNR0202
Starting - finishing date:
2024 - 2024
Project name:
BETTER_Better rEal-world healTh-daTa distributEd analytics Research platform
Leader
Francesc Palau Martínez
Funding entities:
European Commission, Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Palau Martínez, Francesc
Code
101136262
Starting - finishing date:
2023 - 2027
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Theses

  • Rare coding variants in neonatal arterial ischemic stroke
    Institution
    UNIVERSIDAD DE BARCELONA
    20/10/2022
  • Fisiopatología de modelos murinos de a-sinucleína y enfermedad de Parkinson Fisiopatología de modelos murinos de a-sinucleína y enfermedad de Parkinson
    Author
    Juárez Escoto, Elena
    Institution
    UNIVERSIDAD DE BARCELONA
    01/07/2022
  • Fisiopatología mitocondrial en la neuropatía de Charcot-Marie-Tooth asociada al gen GDAP1
    Author
    Civera Tregon, Azahara
    Institution
    UNIVERSIDAD CATÓLICA SANTA TERESA DE JESÚS DE ÁVILA
    03/02/2020
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