Page 61 - CIBERER2016-ENG

The investigators of our group participate in mobility programmes, workshops and CIBER meetings, diffusion in magazines and international congresses of their activity and they attend questions of RD patients addressed from the CIBERER/Orphanet. The group has centred its efforts to broadcast both to the scientific community and the general population all the activity related to the investigation and medical research on RD. For instance, through the commemoration of the “Annual meeting on rare diseases in adulthood”.
Most relevant scientific articles
• Bosch M., Fajardo A., Alcala-Vida R., Fernandez-Vidal A., Tebar F., Enrich C. et al. Hepatic primary and secondary cholesterol deposition and damage in Niemann-Pick disease. American Journal of Pathology. 2016;186(3):517-523.
• Alvarez-Mora M.I., Rodriguez-Revenga L., Madrigal I., Guitart-Mampel M., Garrabou G., Mila M. Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS. Molecular Neurobiology. 2016:1-7.
• Milisenda J.C., Pujol T., Grau J.M.. Not only bright tongue sign in Pompe disease. Neurology. 2016;87(15):1629-1630.
• Catalán-García M, Garrabou G, Morén C, Guitart-Mampel M, Hernando A, Díaz-Ramos À et al. Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis.Clinical science (London, England : 1979). 2016;130(19):1741-51.
• Hernandez-Rodriguez J., Ruiz-Ortiz E., Tome A., Espinosa G., Gonzalez-Roca E., Mensa-Vilaro A. et al. Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center. Autoimmunity Reviews. 2016;15(1):9-15.
Hightlights
Our efforts in 2016 have been focused in: Clinically:
• Updating the emergency protocols to attend patients with metabolic diseases through the Working group of
adult patients with RD.
• Diagnose and follow-up patients with muscle disease. Experimentally:
• Muscular Pathology: Describe and publish the mitochondrial lesion in patients with inclusion body myositis
and understanding mitochondrial involvement in myopathy secondary to statin treatment.
• Neurodegenerative and psychiatric diseases: Describe and publish the mitochondrial lesion in patients with FXTAS (in collaboration with the CIBERER team of Dra Montse Milà) and schizophrenia (in collaboration with
the CIBERSAM team of Dra Lourdes Martorell). Deep in the knowledge of mitochondrial and autophagic involvement in Parkinson disease (idiopathic or inherited) with the collaboration from the CIBERNED team of Drs. Eduard Tolosa and Maria Josefa Martí.
• Obstetric problems: Deepen in mitochondrial lesion of intrauterine growth restriction in human pregnancies and in a rabbit model in collaboration with the CIBERER team of Dr. Edaurd Gratacós.
• Cardiac disease: Start the research line in mitochondrial involvement in cardiac disease in collaboration with the CIBEROBN team of Dr. Francesc Villarroya.
• Mitochondrial toxicity: Describe and publish the mitochondrial toxicity secondary to HIV and its treatment, related to mitochondrial dynamics, in human pregnancies, in collaboration with the CIBERER team of Eduard Gratacós.
• Deepen in the knowledge of therapeutic approaches using gene therapy in MNGIE with the CIBERER team of Dr. Ramón Martí and in assessing the clinical and molecular comorbidity between neuromuscular/ neurodegenerative disorders and diabetes mellitus through an InterCIBER grant with 12 groups belonging to the CIBERNED, CIBERER, CIBERDEM and CIBERBBN.
Finally, we have contributed to attend questions of RD directed to the CIBERER/Orphanet and we have organized the “Annual meeting on rare diseases in adulthood”.
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