Visit of Prof. Dr. Stephen J. Marx at the University of São Paulo collaborating with translational research projects on hereditary endocrine neoplasia

Abstract

Professor Stephen J. Marx graduated in Medicine at the Johns Hopkins Medical School and specialized in Endocrinology at the Massachusetts General Hospital. He was the Chief of Mineral Metabolism Section, Metabolic Diseases Branch of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Chief of Metabolic Diseases Branch (NIDDK), Chief of the Genetics and Endocrinology Section of the Metabolic Diseases Branch (NIDDK) and, Senior Consultant to the Scientific Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Presently, Professor Marx is Special Volunteer in NICHD. He has great experience in genetic and genomic of endocrine neoplasia. He is one of the international references in genetics of endocrine neoplasia and received several awards and honors for his studies and scientific contributions in the area. His research has been mostly directed to elucidate the etiology and the molecular pathways of tumorigenesis of multiple endocrine neoplasia type 1 (MEN1). Furthermore, he characterized several new genes involved in the development of endocrine tumors and their functions in normal and pathologic cells and undercovered the genetic basis of primary hyperparathyroidism (HPT).As examples of its rich scientific output, he was the principal investigator of the research that culminated in the discovery of gene MEN1, responsible for the MEN1 syndrome in 1997. In addition, he has developed studies that revealed, at least in part, the molecular pathways and the intracellular interactions of this gene.He has important contributions for the recognition of the association of germline mutations in genes p15, p18 and p21 in patients with the MEN1-like phenotype in 2009. Professor Marx has nearly 400 international papers and many of them are on MEN1 syndrome, the main subject of his visit to Brazil. In addition, he participated in the study that resulted in the discovery of HRPT2 gene, responsible for HPT-Jaw tumor syndrome Also, he contributed with several studies that resulted at the discovery of role of the calcium receptor (CaR) in hereditary syndromes as familial hypocalciuric hypercalcemia and neonatal severe HPT. The extended knowledge of the CaR gene promoted the development of cinacalcet, a calcimimetic drug used at the treatment of secondary HPT due chronic renal insufficiency and of some forms of primary HPT as parathyroid carcinoma. During the Visiting Researcher Program, Professor Marx will participate actively as Collaborator in several research projects with actual FAPESP financial support (2013/19810-2; 2013/15388-4; 2015/07625-1; 2013/03876-4; 2013/01476-9) or in extensions of projects previously funded by FAPESP (2008/58552-0; 2002/09860-8; 99/01045-9; 08/58552-0). New and additional funds will are required to complementation of the projects 3, 4 and 5. During his visit, Professor Marx will participate of discussions about all the projects related to his visit to Brazil, based on his experience in the clinical management and genetic basis of MEN1.In addition to his participation in research projects, he will join weekly discussions on the clinical management of MEN1 cases of our Service. Simultaneously, he will teach classes to medical students, fellows, post-doc, biologists, doctors and clinical researchers. These classes will take place mostly in the Hospital das Clínicas da FMUSP, Instituto do Câncer do Estado de São Paulo (ICESP) and FMUSP.Other classes and conferences will be programmed in different academic centers as FMUSP-RP, UNICAMP, UNESP-campus Botucatu, UNIFESP e Universidade Federal do Ceará (UFC). (AU)