Professor Anne-Paule Gimenez-Roqueoplo
Anne-Paule Gimenez-Roqueplo (MD, specialized in Endocrinology, PhD in Genetics) is Full Professor in Genetics (Paris Descartes University). She leads an academic research team entitled “Pheochromocytomas and paragangliomas (PCC/PGL), from genetics to molecular targeted therapies” within the INSERM Unit 970 at the Paris
Cardiovascular Research Center at HEGP (PARCC@HEGP), Paris, France.
She is a past chairman of the Pheochromocytoma-Paraganglioma Research Support Organization (PRESSOR) and the Head of the PCC/PGL working group of the European Network for the Study of Adrenal Tumors (ENS@T).
She coordinates the National French registry for SDH-related paraganglioma (PGL.R).
In the last years, her group established recommendations for the practice of the PCC/PGL genetic testing, demonstrated that the identification of a germline SDHB mutation is a high risk factor of malignancy and of poor prognosis and, by an integrative genomic approach, showed that SDHx-PCC/PGL are characterized by an activation of the hypoxia-angiogenesis pathway and by an hypermethylator phenotype.