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

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Our group investigates rare neurogenetic disorders involving the development/functioning of the central and peripheral nervous systems. Our approach includes the genetic and genomic analysis of patient samples, and experimental biology to explore the pathophysiology and therapeutics in patient fibroblasts and in cell/animal disease models.

The group is also part of the Centre for Biomedical Network Research on Rare Diseases (CIBERER) within the Paediatric Medicine and Development Research Programme. Since 2017, we have also been a designated consolidated research group by AGAUR of Paediatric Neurosciences (Government of Catalonia, reference 2017 SGR 1308, coordinated by Dr Francesc Palau).

Together with the Pediatric Institute for Rare Diseases (IPER), 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 that by themselves do not allow to reach the diagnosis. However, these studies will enable the majority of patients to get their diagnosis. Currently, in the PDTT, there are two units with different objectives: the Precision Diagnosis 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 spirit of inquiry focuses on the developing brain and its projection in paediatric precision medicine and in human biological development. We conduct translational research into diagnostic and therapeutic innovation of neurological and cognitive-behavioural genetic disorders.

We are particularly interested in rare diseases and have developed a special programme on undiagnosed diseases and undiagnosed patients. We form part of the Paediatric Institute of Rare Diseases (IPER) of the Hospital Sant Joan de Déu and the Daniel Bravo Centre for Diagnosis and Research in Minority Diseases. We coordinate our research with that of IPER with the participation of biologists, geneticists, bioinformatics, paediatricians and neurologists.

In 2018, together with the Department of Genetic and Molecular Medicine and IPER, we established the Translational Diagnostic Programme, which includes precision phenotyping, genetic and genomic analysis and the biological study of the impact of genetic variants and new genes on diseases. Meanwhile in the laboratory, we use patient fibroblasts and cell and animal models for pathophysiological studies aimed at elucidating the primary cause of diseases, identifying biomarkers for clinical use and developing therapeutic procedures.

Group members

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Projects

Project name:
Genes y Fenotipos de Síndromes Parkinsonianos: validación funcional de hallazgos genéticos - ParkGenPhen
Leader
Janet Hoenicka
Funding entities:
Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Hoenicka, Janet
Code
PI22/00680
Starting - finishing date:
2023 - 2025
Project name:
The clinical brain of coffin-siris syndrome: comprehensive approach to a neurodevelopmental disorder
Leader
Francesc Palau Martínez
Funding entities:
ASOCIACIÓN ESPAÑOLA COFFIN-SIRIS
Code
PFNR0183
Starting - finishing date:
2023 - 2024
Project name:
SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
Leader
Francesc Palau Martínez
Funding entities:
Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
Code
2021 SGR 01610
Starting - finishing date:
2022 - 2024
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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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