Neurogenetics and Molecular Medicine

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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).

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

Last Publications

More Publications


Project name:
El cerebro clínico del síndrome Coffin-Siris: Estudio integral de un trastorno del neurodesarrollo
Francesc Palau Martínez
Funding entities:
Hospital Sant Joan de Déu - Esplugues HSJD
Starting - finishing date:
2020 - 2023
Project name:
Application of Advanced multimodal microscopy and imaging to foster therapy development in neuromuscular diseases
Cecilia Jiménez Mallebrera, Mónica Roldan Molina
Funding entities:
Torrons Vicens SL
Turrons Vicens
Starting - finishing date:
2020 - 2023
Project name:
Genes y fenotipos de síndromes parkinsonianos: estudio clínico y experimental
Janet Hoenicka
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Starting - finishing date:
2020 - 2022
More projects


  • Fisiopatología mitocondrial en la neuropatía de Charcot-Marie-Tooth asociada al gen GDAP1
    Civera Tregon, Azahara
  • Estudio funcional de la proteína ANKK1 en el músculo esquelético: implicaciones en distrofias musculares
  • Fisiopatología de la ataxia de Friedreich: Transporte y degeneración axonal
More Theses


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