The annual meeting of the Spanish society of human genetics (AEGH, Asociación Española de Genética Humana) has been hold in Valencia (25-28 April, 2017). Vincenzo Lupo and Carmen Espinós has presented the last findings of the current research lines related to Wilson disease, neurodegeneration with brain iron accumulation (NBIA), and the Charcot-Marie-Tooth disease and related neuropathies.
The II 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 M. Elena Mateo (Orphanet & CIBERER) and the speakers were Carmen Aguado (CIPF & CIBERER), Beatriz Llamusí (Universitat de València & INCLIVA), Belén Pérez (Universidad Autónoma de Madrid & CIBERER), and Gloria González (Universidad de Navarra). The second session, Clinical and Genetic Diagnosis of Rare Diseases, was chaired by Susi Martínez (Alianza Española de Familias de Von Hippel-Lindau) and the speakers were Mª Ángeles Requena (Hospital de Hellín), Belén Pérez-Dueñas (Hospital Sant Joan de Déu & CIBERER), and Elena Aller (Hospital U. i P. La Fe & CIBERER). Near 200 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.