My scientific activity has been focused in the field of Health Sciences, particularly in the Human Genetics area. During my degree training in 2006, I worked at Cancer Genetics Group - Research Center from Oncology Portuguese Institute Francisco Gentil - Porto (IPOPFG). I developed a study on the field of bladder cancer. Specifically, I performed the analysis of the methylation pattern of a tumor suppressor genes panel in these neoplasias. The aberrant promoter methylation (i.e., hypermethylation) is an alternative pathway for tumor suppressor gene silencing in many human neoplasias and a promising biomarker for both diagnosis and prognosis of those neoplasms, including the urinary bladder carcinoma. I have evaluated the methylation pattern of seven tumor suppressor genes promoter region in order to identify potential biomarkers to detect and predict bladder tumors as well as to assess the correlation between the frequency and methylation levels with clinicopathological parameters. I have worked with various techniques of molecular biology and genetics. My supervisors in this project were Dr. Carmen Jerónimo, researcher at IPOPFG and Dr. Maria João Sousa, researcher and professor at Biology department, University of Minho (UM). Between the end of 2007 and the beginning of 2010 I worked as Master student at Medical Genetics Center Dr. Jacinto de Magalhães - National Health Institute Dr. Ricardo Jorge (CGMJM-INSA) on Lysosomal Storage Disorders (LSDs), a group of rare inherited metabolic disorders. During this period I studied the splicing mechanisms on IDS gene (Mucopolyssacharidosis II, MPSII, OMIM +309900) through the analysis of a disease-splicing mutation in this gene. I have implemented cloning and transfection techniques to perform the functional analysis of the IDS gene interest region. My supervisors in this project were Dr. Sandra Alves, at the time researcher at CGMJM-INSA and Dr. Rui Oliveira, researcher and professor at Biology department, UM. In April 2016, I finished my PhD in the same area with a thesis entitled - Splicing therapeutics for patients affected by lysosomal storage disorders. The work had as major goals, the genetic analysis and splicing mechanisms comprehension of a panel of gene mutations involved in the pathogenesis of LSDs as well as the design and development of RNA-based therapies for the in vitro correction of the aberrant effects of some of those splicing mutations. My supervisors in PhD work were Dr. Sandra Alves, researcher at Human Genetics Department, LSDs research group, Public Health Center Dr. Gonçalves Ferreira - National Health Institute Dr. Ricardo Jorge/ Center for the Study of Animal Science (INSA/CECA-ICETA) and Dr. Maria João Prata, researcher at IPATIMUP/i3S and professor at Faculty of Sciences - University of Porto. In May 2016, I continue my work at INSA/CECA-ICETA in the LSDs research group headed by Dr. Sandra Alves, now as a post-doc researcher. Between 2016 and the beginning of 2021, I worked as a fellow in a FCT granted project - Application of splicing approaches to exploit alternative therapies for Lysosomal Storage Diseases: in vitro and in vivo studies. Currently, I have a permanent position contract as auxiliary researcher with INSA/CECA-ICETA and I continue to develop work in the RNA therapeutics field. Presently, I am the principal investigator of two scientific projects focused in the development of U1 snRNA modified therapies and antisense oligonucleotide splicing modulation therapies for specific LSDs.