Isabel Hinarejos, a pre-doctoral student in the lab of Rare Neurodegenerative Diseases, is doing a stay in the laboratory of Professor Magdalena Götz (Ludwig-Maximilians-Universität München). The objective is to learn the protocol to derive fibroblasts to neurons directly. In this way, we will have a rapid model for the study of disease mechanisms and, above all, to investigate whether or not a mutation is pathological using a neuronal human cell model. The picture shows the first neurons obtained. Congratulations Isabel!!
On February 22-26, the International Conference on Human Genetics was held In Cape Town. Dr. Carmen Espinós presented a poster focused on the use of microRNAs as diagnostic/prognostic biomarkers of Wilson's disease. A very interesting congress with leading research groups from all over the world.
Another year we have celebrated the Conference of Female Researchers in Rare Diseases and it is its seventh edition. In front of an audience of more than two hundred people, patient associations and researchers have presented their work. This year the following have participated: Belén Hueso, Gema García, Sheyla Velasco, Onitza Sagredo, Mireya Carratalá, Lydia Díez, Alejandra Darling, and Gema Esteban. The topics of the presentations dealt with ataxia, spinal muscular atrophy, retinal dystrophies, Dravet epilepsy, paediatric neurodegenerative diseases, and Wolfram syndrome. An exceptional day. Thanks to the speakers for their participation and to the large audience for coming once again to the Príncipe Felipe Research Center. We will continue working to better understand rare diseases!
Yesterday, February 15, the Research Center Principe Felipe (CIPF) and the Fundació Per Amor a l'Art (FPAA) signed a new collaboration project for the next three years (2023-25). This is entitled "Improving the diagnosis and prognosis of patients with Wilson's disease" and is led by Dr. Carmen Espinós. This new initiative has the following objectives: (1) To genetically characterize patients with Wilson disease and discover genes involved in the Wilson-like phenotype; (2) To investigate whether lamin may act as a genetic modifier of ATP7B and therefore be responsible for neurological signs in a patient affected by Wilson disease; (3) To validate the identified miRNA signature that correlates with biochemical parameters associated with liver damage and therefore acts as a useful biomarker for its prognosis and assessment of new drug treatment. Let's start working now!!
On December 16-17, the International Conference on Inherited Metabolic Diseases was held at the Faculty of Medicine and Pharmacy of Marrakech, organized by Dr. Naïma Fdil, who kindly invited Dr. Carmen Espinós whose talk was on the use of microRNAs as diagnostic/prognostic biomarkers of Wilson's disease. Researchers and clinicians with long experience in the clinical and genetic diagnosis of hereditary metabolic diseases participated in the workshops.
