Fitxa persona

As a university student (Universitat de València, UV), I belonged to the research team awarded with the prize “Certamen de Jóvenes Investigadores” with a proposal about polymorphisms associated with alcoholism (1993). I got my degree in Biology (1993) and my dissertation about Usher syndrome” (1998) was awarded as the best doctoral thesis by ONCE - UV. With this study, I initiated my career on genetics of rare Mendelian diseases. The main scientific contributions were the characterization of genetic bases of Usher syndrome in clinical series and the estimate of prevalence in Spain. My postdoctoral period started in the Unit of Congenital Bleeding Disorders at the University Hospital La Fe (1998-2003), where I got a fellowship from the Instituto de Salud Carlos III (ISCIII). I collaborated on research lines focused on genetics of hemophilia A and B, coagulation FVII deficiency and von Willebrand disease as a postdoctoral researcher. I participated in the genetic study of cohorts of Spanish patients with several coagulopathies. In 2003, I moved to the Instituto de Biomedicina de Valencia – CSIC where I collaborated with open research lines focused on genetics of ataxias, peripheral neuropathies and movement disorders. I described for the first time the genetic bases of an ultrare disease: uroconase deficiency. I started as a group leader with my Miguel Servet I (MSI, 2009-15), and with the first grants, I initiated my own research lines. In 2014, I was evaluated and obtained the MSII contract as PI (2015-18). My group provided new data to better understand the disease mechanism of Charcot-Marie-Tooth type 4C (CMT4C); to characterize genetics associated with CMT and generate genetic tools for diagnosis; to discover junctophilin as a genetic modifier of CMT2K; and to establish MORC2 as a new gene involved in CMT2Z. I initiated new lines focused on the molecular bases and biomarkers for NBIA (Neurodegeneration with Brain Iron Accumulation) and Wilson’s disease (WD). I participated in the development of a new clinical scale for NBIA patients as well as the description of the genetic bases. My group reported the genetics of clinical series of WD and detected a miRNA profile as biomarkers (patent).

During these years as MS researcher and group leader, I got projects funded by public or private institutions such as ISCIII, IRDiRC, CNAG, Foundation La Marató TV3, Foundation Ramón Areces, Foundation Per Amor a l'Art, AFM-Téléthon and EASIGenomics. Recently, I was awarded with my sixth national public project funded by the ISCIII (PI24-00017).

Technological development activities, in 2012, I moved my MSI contract to the Hospital U. La Fe where I created the Neurogenetics Platform, a service in which we offered genetic analysis of rare hereditary neuropathies. In 2013, I moved to the CIPF where, do I ran my own group and also worked in the Service of Genomics and Translational Genetics (SGGT), in which I carried out genetic analysis of rare neuropathies. In 2016, we generated a gene panel for hereditary peripheral neuropathies that we traded in the service. I was the SGGT’s director from 2015 until its closing in 2021.

In 2024, I obtained a teaching position in the Genetics Department of the University of Valencia where I currently carry out my teaching and research activities.

I work close with PAOs (patient advocacy organizations): (1) I belong to the scientific board of the Spanish PAOs on Wilson disease (AEFE Wilson) and ataxias (FEDAES), and I usually collaborate in meetings with others (ADIBI, ASVAH). (2) I am the chair-woman of AITER (consortium with 15 institutions for the Translational Research in Rare Diseases in Valencia). (3) I organize since 2016, the National Conference of Female Researchers in Rare Diseases, which binds science, women and rare diseases, and aims to bring science about rare diseases made by women closer to citizens.