Genetics and Genomics of Neuromuscular and Neurodegenerative DisordersFrom 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.
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.
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.
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.
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.
