Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

IV Female Researchers Conference on Rare Diseases

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.

 

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