Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Seminar by Prof. José A. Sánchez-Alcázar at the CIPF

Prof. José A. Sánchez-Alcázar from University Pablo de Olavide and Andalusian Centre for Developmental Biology (CABD) gave a talk at the CIPF entitled: “Braincure: Therapy for Neurodegeneration with Brain Iron Accumulation (NBIA)”. A project with a main goal: To achieve an effective treatment for patients suffering from NBIA.

 

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Conference on Movement Disorders

From genome to precision medicine in children with movement disorders (Barcelona, November 30th & December 1st, 2018). Meeting for families and researchers on neurodegeneration with brain iron accumulation disorders and related diseases. Dr. Carmen Espinós gave two talks focused on NBIA mimics and on the genetics of the Spanish clinical series of NBIA patients investigated in her lab. 

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15th International Congress on Neuromuscular Diseases

Vincenzo Lupo and Carmen Espinós have atended to the 15th International Congress on Neuromuscular Diseases (ICNMD) held in Vienna (Austria, July 6-10, 2018). They have participated in several written communications and defended the poster entitled: Characterization of neuronal molecular mechanisms underlying CMT2Z neuropathy.

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III National Meeting of Women Researchers on Rare Diseases

The III National Meeting of Women Researchers on Rare Diseases has been hold in the Príncipe Felipe Research Centre (CIPF) on March 2th, organized by Carmen Espinós. The first session, "Therapy and Treatment for Rare Diseases" was chaired by María Torralba (Indacea Platform) and the speakers were Pilar González-Cabo (INCLIVA & CIBERER), Ada García-Gimeno (Universitat Politècnica de València), Dunja Lukovic (CIPF), and Aurora Pujol (ICREA, IDIBELL & CIBERER). The second session, “Clinical Research on Rare Diseases”, was chaired by Silvia Cholbi (Spanish Association of patients with the 5q14.3 microdeletion syndrome, MEFC2) and the speakers were Carmen Ayuso (Fundación Jiménez Díaz & CIBERER), Teresa Jaijo (Hospital U. i P. La Fe & CIBERER), Marina Berenguer (Universitat de València, Hospital U. i P. La Fe & CIBEREHD), and Encarna Guillén (H. Clínico U. Virgen de la Arrixaca). Near 150 people attended this meeting for students, patients and citizens in general, and that has as main goal, to closer the science made by women researchers on rare diseases in our country.

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II Meeting of the Consortium on Rare Diseases – Comunitat Valenciana

On February 28th, Rare Disease Day, the Valencian Consortium for the traslational research on rare diseases, had the second meeting at the Hospital General Universitario de Alicante (HGUA), with the support of patients’ associations: ADEC, FEDER and ADIBI. During this meeting, the speakers presented the different research lines that are ongoing in several Valencian centers: Centro de Investigación Príncipe Felipe (CIPF, Carmen Espinós), Universitat de València (Federico Pallardó), Instituto de Biomedicina de Valencia - CSIC (Vicente Rubio), FISABIO (Óscar Zurriaga), IIS La Fe (José M. Millán), and others.  

 

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