Patricia Leal de Melo Dahia

I am an MD, PhD with clinical training in Endocrinology and Metabolism and laboratory training in Cancer Genetics, Cellular and Molecular Biology. I am currently a tenured Professor of Medicine at the University of Texas Health Science Center at San Antonio (UTHSCSA). My career has been dedicated to research on the genetics of cancer, with emphasis on inherited endocrine tumors and discovery of cancer susceptibility genes (including PTEN, SDHB, KIF1B, EPAS1/HIF2A, TMEM127, etc). On the translational level, our studies helped define paradigms for genetic testing, patient surveillance, and innovative therapeutic modeling, especially in pheochromocytomas and paragangliomas. Our integrative genomics and signal transduction work uncovered links between energy metabolism, hypoxia, endosome/lysosomal signals, and cancer susceptibility. In parallel to the ongoing gene discovery efforts through a patient sample repository (NCT03160274), current lines of investigation in my laboratory explore: a) the function of transmembrane protein TMEM127 tumor suppressor as a component of E3 ubiquitin ligase complexes directed toward substrates, including oncogenes, immune surveillance and nutrient response; b) epigenetic modulation by SDH and HIF mutations, and c) the epistatic interaction between in vivo hypoxia and tumorigenesis (cyanotic congenital heart disease and paraganglioma, NEJM, 2018). Throughout my independent career I have maintained continuous funding by Federal, State and Private grant agencies, developed multidisciplinary collaborations, led multi-investigator consortia. I have also mentored over 50 trainees at various levels, many of whom have gone on to independent careers in academia, industry, or private practice. I currently serve as a co-leader of the Cancer Development and Progression (CDP) program of the Mays Cancer Center at UTHSA, and I am the current Research Director of the Pheo-Para Alliance Center of Clinical and Research Excellence at UTHCSA. I am a co-founder of the UTHSA Hereditary Endocrine Neoplasia Multidisciplinary Virtual Tumor Board, with a goal to enhance and harmonize multidisciplinary care of patients with these rare cancers and foster research opportunities. My career goal is to contribute to advance basic, translational and clinicalknowledge of rare tumors to improve patient care and to train the next generation of translational researchers in the field. (Source: Lattes Curriculum)