Recurso 5 220x99 

Rare Neurodegenerative Diseases

New project on Wilson disease in collaboration with the FPAA

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!!