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leaD reSearcHer
Cardellach López, Francesc
Hospital Clínico y Provincial de Barcelona
Facultad de Medicina Planta 4, Dep. 4B Cellex (IDIBAPS)
C/ Villarroel 170 08036 Barcelona
(+34) 93 227 54 00- Ext 2907 [email protected] group website
GROUP MEMBERS
Staff members: Garrabou Tornos, Gloria | Morén Núñez, Constanza
Contratados a cargo de proyecto: Catalán García, Marc
Associated members: Grau Junyent, José María | Guitart Mampel, Mariona | Tobías Baraja, Ester
Main lines of research
The activity of U722 is framed within the clinical practice and the biomedical patient-oriented translational research. It is integrated by a multidisciplinar group of medical doctors and basic investigators whose labor is centered in the diagnosis and clinical follow up of patients with rare diseases (RD), but also on the investigation of its molecular basis.
Main research lines:
• Creation of the Group for Medical Assistance of Adult Patients with RD (basically of metabolic,
mitochondrial and muscular origin): diagnosis and management of patients, training of specialized staff, clinical and experimental data base recruitment and biobank management. High efforts on updating the emergency clinical protocols to attend patients with metabolic diseases.
• Establishment of etiological bases, putative diagnostic/prognostic biomarkers and potential therapeutic targets in:
1. Muscular Pathology: mitochondrial, inflammatory, autoimmune and toxic with special focus in inclusion body myositis and myopathy secondary to statin treatment.
2. Neurodegenerative and psychiatric diseases: Parkinson disease (idiopathic or inherited), X-Fragile syndrome and schizophrenia.
3. Obstetric problems, especially intrauterine growth restriction and cardiovascular fetal remodeling. 4. Cardiac disease.
5. Mitochondrial toxicity induced by drugs (antiretrovirals, antibiotics, antipsychotics) or toxic
agents (HIV, CO, tobacco) that cause clinic manifestations characteristics of mitochondrial diseases (lipodystrophy, hyperlactatemia, peripheral neuropathy, infertility, obstetric problems, myopathy). 6. Gene therapy in MNGIE and clinical and molecular comorbidity between neuromuscular/ neurodegenerative disorders and diabetis mellitus.
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PROGRAMMES
Mitochondrial and Neuromuscular Medicine