Personal information
Biography
I am a child neurologist specialized in neuromuscular diseases. I obtained my PhD at the University of Barcelona in 2017, with the thesis "Congenital Myasthenic Syndromes in Spanish Population: Clinical Characterization, Genetics and Therapeutic Response", and I am part of the Neuromuscular Unit of the Hospital Sant Joan de Déu, Barcelona.
I have always been interested in biomedical research and I have been combining it with my clinical work. I am particularly interested in the molecular mechanisms underlying neuromuscular diseases and my current research focuses on the search for new genes, deep phenotypic characterization, the application of omics techniques to better understand the pathophysiology of these diseases and the development of new tools to more accurately measure motor function. I firmly believe that working hand in hand with patients and their families is fundamental to advance knowledge.
I have published more than 60 articles in scientific journals, mainly on topics related to genetics and deep phenotyping of pediatric neuromuscular diseases, written book chapters, presented more than 100 communications at scientific meetings and participate as much as I can as a speaker in courses and workshops to share my interest and knowledge about neuromuscular diseases.
Activities
Funding (4)
PI24/00473
CP22/00141