Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Dr. Paula Sancho

Today, september 20th-2019, Paula Sancho has defended her PhD thesis. Of course, she was brilliant with her dissertation. Congratulations Dr. Sancho!!!

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European Human Genetics Conference - 2019

We have presented two posters at the European Human Genetics Conference held in Gothenburg, Sweden (June 15-18, 2019) related to the projects on the genetics of NBIA disorders, and the pathophysiology of CMT2Z. And since we were in Sweden, we had a meeting with Roman Chrast’s group at Karolinska Institutet in order to discuss the latest results of the on-going project on CMT2Z funded by the AFM Téléthon focused. 

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III National Congress of Young Researchers in Biomedicine

The PhD students belonging to the Laboratory of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders have presented their last findings in the III National Congress of Young Researchers in Biomedicine held at CIPF. This conference is organized by PhD students for mainly, PhD students. Paula Sancho and Lola Martínez-Rubio presented written communications focused on pathophysiology of MORC2 (CMT2Z) and genetics of NBIA, respectively. The presentation of Ana Sánchez-Monteagudo entitled “Clinical and molecular characterization of Wilson’s disease and related liver disorders”, was selected for oral communication.

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Spanish Conference on Human Genetics

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)".

 

 

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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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