Paula Jorge PhD is a researcher and human genetics Professor, as well as a Clinical Laboratory Geneticist at Centro de Genética Médica Jacinto de Magalhães, (Santo António) for more than three decades. Paula Jorge completed a Biochemistry degree at the Faculty of Sciences of the University of Porto in 1991, followed by a Doctoral Degree in Biomedical Sciences at School of Medicine and Biomedical Sciences of the UP in 2001, within a PhD fellowship of the Portuguese Science Foundation. Paula's doctorate specialization focused on the biochemical and molecular characterization of X-ALD patients targeting on the sub-cellular localization of the protein encoded by ABCD1 gene, assessing genotype-phenotype correlation and implementation of news assays for carrier status determination and prenatal diagnosis. Paula Jorge has since then been a clinical laboratory professional, with skills and clinical competences recognized by the European Board of Medical Genetics in 2015, as an European registered Clinical Laboratory Geneticist and her work focuses on the design and implementation of molecular diagnostic strategies. She has been actively involved in the development of clinical laboratory professionals with the Portuguese Society of Human Genetics . Paula has successfully applied the rare disorders expertise to mentoring programs for a variety of students including Masters and PhD degrees, early career academics and future clinical laboratory genetics specialists. Since 2013 Paula Jorge is the scientific leader of the Clinical and Experimental Human Genomics research group where a clear focus on translational research and applied clinical activity are underpinned by solid expertise and leadership in human clinical laboratory area. Her current research interests include deciphering the molecular causes of intellectual disability and developmental disorders, along with understanding the role of the FMR1 gene and its modifiers in female fertility, aiming to identify novel biomarkers in female fertility and to understand the FMR1 gene involvement in the ovarian reserve. A patent "Method of evaluating female reproductive function" is among the most recent achievement. Paula is the principal investigator of a research project recently recommended for funding by FCT, which targets to contribute to the advancement of knowledge by providing new insights into the mechanisms controlling human fertility. This R&D project aims at deciphering the relationship between the genetics of FMR1 locus and DNA repair and ultimately lead to a better understanding of human fertility, in line with the 2030 Agenda Goals.