Rare Neurodegenerative Diseases

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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International Day of Women and Girls in Science

The International Day of Women and Girls in Science, celebrated each year on 11 February, was adopted by the United Nations General Assembly to promote full and equal access to and participation in science for women and girls. We must make visible women researchers to students because they are the future and they need to know that science can be carried out by women. Carmen Espinós gave a class in Riu Túria High School focused on research performed by Spanish women.


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Seminar by Prof. José A. Sánchez-Alcázar at the CIPF

Prof. José A. Sánchez-Alcázar from University Pablo de Olavide and Andalusian Centre for Developmental Biology (CABD) gave a talk at the CIPF entitled: “Braincure: Therapy for Neurodegeneration with Brain Iron Accumulation (NBIA)”. A project with a main goal: To achieve an effective treatment for patients suffering from NBIA.

 

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Conference on Movement Disorders

From 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. 

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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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