Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

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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X Scientific meeting for patients with Wilson disease

This January 20th, we had the opportunity of sharing a meeting with patients who suffer the Wilson disease. Among the speakers, the Prof. Peter Terenci who probably investigates the largest clinical series and who is an international reference for the clinical research of this rare disease. A pleasure this opportunity offered by the Fundació Per Amor a l’Art to bring our different lines of research closer to patients. 

 

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Science Week in Quart

One more year, and this is the 6th edition, the association Quart es Ciencia (Quart is Science) has celebrated the Science Week in Quart de Poblet (Valencia, Spain). The current president of the association is Dr. Carmen Espinós. Many activities have been carried out: Cinema Forum, workshops for children, exhibitions, and other. The speeches have been focused on current issues such as alcoholism in teenagers by Dr. Consuelo Guerri, breast cancer by Dr, Ana Lluch, energy systems models by Dr. Avelino Corma, and healthy food by Dr. José Vicente Gil. An honour to have all these researchers during the Science Week in Quart!!!

 

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