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Genetics: research

The Genetics and Molecular Medicine Department (SMGM) develops scientific activity at SJD Barcelona Children's Hospital and the Paediatric Research Institute at SJD Barcelona Children's Hospital (IRP-HSJD). The SMGM's clinical and lab-related activities involve research into genetic and metabolic disorders.

Biomedical research projects 

Members of the Department develop biomedical research projects funded by competitive public and private agencies (Instituto de Salud Carlos III, the state-run RD&I plan of the Spanish Ministry of Economy and Competitiveness, the European Commission, the 'Amigos de Nono' Foundation and the Isabel Gemio Foundation).

CIBERER research groups

We take part in two research groups of the CIBER on Rare Diseases: U732 and U703, led by Francesc Palau and Rafael Artuch (together with Jaume Campistol), respectively.

Neurogenetics and Molecular Medicine Group 

The Neurogenetics and Molecular Medicine Group of IRP-HSJD, which aims at understanding cellular and molecular bases and the pathophysiology of neurogenetic disorders, uses genomic approaches, cell models and animal models in transgenic and knockout mice.

We research neuromuscular diseases (Charcot-Marie-Tooth disease, Friedreich's ataxia, Duchenne muscular dystrophy), central nervous system disorders such as Parkinson's disease and other movement disorders, Menkes Syndrome and neurodevelopmental disorders.

Members of the research group

  • Dr. Janet Hoenicka (coordinator)
  • Dr. Francesc Palau Martínez
  • Dr. Laura Domínguez Berzosa
  • Dr. Xochitl Castro Martínez
  • Azahara Civera Tregón
  • Dolores López López