Apresentação Pessoal

Paula Jorge, Assistant Professor of Genetics and Genomics at the School of Medicine and Biomedical Sciences, University of Porto (ICBAS-UP), is dedicated to pedagogical excellence and innovation while seamlessly integrating with her leadership of the Clinical and Experimental Human Genomics (CEHG) research group at UMIB. Her influence extends to the directorship of the ICBAS Cytogenetics Laboratory, where she preserves the legacy of Prof.ª Beatriz Porto, a national pivotal figure in Fanconi Anemia diagnostics.
With a robust academic foundation, including a degree in Biochemistry (1991) and a doctorate in Biomedical Sciences (ICBAS-UP),  with a thesis entitled "X-linked Adrenoleukodystrophy (X-ALD): biochemical and molecular studies" (2001), she has cultivated a clinical laboratory geneticist distinguished career spanning over three decades. Her work is characterized by pioneering research and methodological innovation. Notably, her seminal publication in PNAS (DOI: 10.1073/pnas.92.5.1674) laid the groundwork for gene therapy for X-ALD, now a basis of clinical practice. More recently her work allowed the inclusion of Congenital Disorder of Deglycosylation-2 in the OMIM database (# 619775). Recognized by the European Board of Medical Genetics as a European Registered Clinical Laboratory Geneticist (ErCLG), she is an active and influential member of the national and international scientific communities. Her participation in prestigious consortia, including EUGLOH, EMQN, and COST Actions (CA16210, CA21113, CA21105, and IG16210), underscores her commitment to collaborative, cross-disciplinary research. In her roles as Coordinator of the Scientific Committee of the Portuguese Society of Human Genetics (SPGH) and member of the Commission for Clinical and Laboratory Specialties in Medical Genetics (SPGH | CEsp-CLGM), she is instrumental in fostering collaboration and harmonizing national laboratory practices with European directives. Paula Jorge's dedication to translational research is exemplified by her project "Finding the X-EPIgeneTic burden in FEmale infeRTILITY" (2021-2024), which addresses a critical social challenge. This work culminated in the patenting of a mathematical formula for evaluating female reproductive function (PT115244B), a testament to her ability to translate research into tangible clinical applications. Beyond her research and teaching, she is deeply committed to mentoring young scientists and engaging with patient advocacy groups. Her commitment to refining clinical laboratory practice is further evidenced by her recent work on the reclassification of copy-number variants of unknown significance (CNVUS) in neurodevelopmental disorders.This multifaceted approach underscores her unwavering dedication to the practical application of scientific knowledge for the betterment of society.

Áreas de Interesse

1. Health sciences > Medical sciences
2. Natural sciences > Biological sciences > Biology