Last week the Conference on Human Genetics was held in Madrid, organized by the Spanish association of human genetics (AEGH). The Dr. Espinos' team presented two communications entitled: "Clinical aspects and genetics of the Wilson's disease and related liver disorders", and "New genes associated with disorders with neurodegeneration with brain iron accumulation (NBIA)".
The CIPF has organized the 4th conference of female researchers on rare diseases (February 22, 2019), promoted by Carmen Espinós. This year the focus was on clinical trials for patients who suffer from PKAN (PANK2 associated neurodegeneration), retinosis pigmentaria, and fragile X syndrome. These talks were presented by M. José Martí (H. Clínic, Barcelona), Regina Rodrigo (H. U. i P. La Fe, Valencia) and Yolanda de Diego (IBIMA, Málaga). Regarding research focused on genetics and clinical aspects, the speakers were Inmaculada Calvo (H. U. i P. La Fe, Valencia), Lídia González-Quereda (H. Santa Creu i Sant Pau, Barcelona), and Anabel Teruel (H. U. Clínic, Valencia). They talked about autoimmune disorders in children, genetics of neuromuscular diseases, and cancer. Moreover, the associations of patients with fibromyalgia and toxic oil syndrome thanks to the collaboration of María López-Matallana and Carmen Cortés.