Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

International Day of Women and Girls in Science

The International Day of Women and Girls in Science, celebrated each year on 11 February, was adopted by the United Nations General Assembly to promote full and equal access to and participation in science for women and girls. We must make visible women researchers to students because they are the future and they need to know that science can be carried out by women. Carmen Espinós gave a class in Riu Túria High School focused on research performed by Spanish women.


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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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