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Research Groups
Group U722
Programme: Medicina Mitocondrial y Neuromuscular Lead Researcher: Cardellach López, Francesc
Group members
STAFF MEMBERS: Garrabou Tornos, Gloria.
AT THE EXPENSE OF THE PROJECT: González Casacuberta, Ingrid.
ASSOCIATED MEMBERS: Catalán García, Marc | Grau Junyent, José María | Guitart Mampel, Mariona | Moren Núñez, Constanza.
Main lines of research
The activity of U722 is framed within the clinical practice and the biomedical patient-oriented trans- lational research. It is integrated by a multidisciplinar group of medical doctors and basic investigators whose labor is centered in the diagnosis and clini- cal follow up of patients with rare diseases (RD), but also on the investigation of its molecular basis and the development of prognostic/diagnostic biomark- ers and potential treatments. Main research lines:
• Creation of the Group for Medical Assistance of Adult Patients with Rare Diseases (basically of metabolic, mitochondrial and muscular origin, among others): diagnosis and management of patients, training of specialized staff, clinical and experimental data base recruitment and biobank management.
• Establishmentofetiologicalbases,putativediag- nostic/prognostic biomarkers and potential thera- peutic targets in:
- Muscular Pathology: mitochondrial, inflammatory, autoimmune and toxic. Special focus in inclusion
body myositis and myopathy secondary to sta- tin treatment. / Mitochondrial toxicity induced by drugs (antiretrovirals, antibiotics, antipsychotics) or toxic agents (HIV, CO, tobacco) that cause clinic manifestations characteristics of mitochondrial diseases (lipodystrophy, hyperlactatemia, periph- eral neuropathy, infertility, obstetric problems, myopathy). / Neurodegenerative and psychiatric diseases: Parkinson disease (especially the one associated to mutations in Parkin and LRRK2 genes), X-Fragile syndrome, Huntington disease and schizophrenia. / Obstetric problems (espe- cially intrauterine growth restriction and cardio- vascular fetal remodeling or preeclampsia). / Car- diac disease. / Gene therapy in MNGIE.
The investigators of our group participate in mobility programmes, workshops and CIBER meetings, dif- fusion in magazines and international congresses of their activity and they attend questions of RD pa- tients addressed from the CIBERER/Orphanet. The group has centred its efforts to broadcast both to
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