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Multiple Endocrine Neoplasia type 2 (MEN 2) and Medullary Thyroid Carcinoma (TCM): new issues in developmental biology, genetics, immunology, epidemiology, mechanisms of disease and clinical management

Grant number: 21/02752-6
Support Opportunities:Research Projects - Thematic Grants
Duration: March 01, 2022 - February 28, 2027
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Rui Monteiro de Barros Maciel
Grantee:Rui Monteiro de Barros Maciel
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Pesquisadores principais:
João Roberto Maciel Martins ; Magnus Régios Dias da Silva
Associated researchers: Adriano Namo Cury ; Ana Amélia Fialho de Oliveira Hoff ; Ana Luiza Silva Maia ; Bruno Fiorelini Pereira ; Carolina Ferraz da Silva ; Caroline Serrano Do Nascimento ; Celia Regina Nogueira ; Cléber Pinto Camacho ; Elisa Napolitano e Ferreira ; Fernanda Vaisman Balieiro ; Gisele Giannocco ; Gláucia Maria Ferreira da Silva Mazeto ; Helton Estrela Ramos ; Janete Maria Cerutti ; José Gilberto Henriques Vieira ; Laura Sterian ; Léa Maria Zanini Maciel ; Lidia Maria Rebolho Batista Arantes ; Lucas Leite Cunha ; Luiz Paulo Kowalski ; Marcio Abrahão ; Marcos Roberto Tavares ; Maria Cecília Martins Costa ; Marina Malta Letro Kizys Polisel ; Miguel Mitne Neto ; Niels Olsen Saraiva Câmara ; Ricardo Ribeiro Gama ; Rodrigo Pinheiro Araldi ; Rodrigo Portes Ureshino ; Rosa Paula Mello Biscolla ; Rosalia Do Prado Padovani ; Susan Chow Lindsey ; Valdemir Melechco Carvalho
Associated grant(s):22/05221-4 - Multi-user equipment approved in grant 2021/02752-6: Automatic sequencer Seqstudio with 4 capillaries - A34274, AP.EMU
Associated scholarship(s):23/03161-7 - RET Gene Sequencing: study of ancestry, ethnic-geographical aspects and econometrics of the implementation of genetic diagnosis in patients with suspected Multiple Endocrine Neoplasia Type 2 in Brazil, BP.DD
23/08780-7 - Construction and scientific exploration of a clinical and molecular database of patients investigated by BRASMEN., BP.TT
23/02255-8 - To Improve the characterization of the variability and the genotype-phenotype correlation in patients with Multiple Endocrine Neoplasia type 2 (MEN2) and Medullary Thyroid Carcinoma "apparently sporadic" using Next Generation sequencing (NGS), BP.IC
+ associated scholarships 23/02964-9 - Development of Zebrafish (Danio rerio) model of Multiple Endocrine Neoplasia type 2 (MEN2) to study the tumor mechanism of Medullary Thyroid Cancer (MTC) and evaluate the effect of new drugs in the treatment of MTC, BP.DD
23/02965-5 - RET gene editing via CRISPR/CAS9 in Medullary Thyroid Cancer (MTC) cell-lines, BP.DD
23/03025-6 - Contribute to the development of an animal model of MEN2 in Danio rerio ("zebrafish") to understand the tumor mechanism of MTC and to evaluate the effect of new drugs in the treatment of MTC, BP.IC
23/03891-5 - Contribute to the development of the gene editing model by the CRISPR/Cas9 System of RET gene mutations in Medullary Thyroid Carcinoma (MTC) cell-lines, BP.IC
22/11388-9 - Development of animal model of MEN2 in Danio rerio ("zebrafish") to understand the mechanism associated with the development and progression of MTC and study the effect of new drugs on MTC., BP.TT
22/13451-0 - To study the immunological processes involved in sporadic or Multiple Endocrine Neoplasm (MEN2) related Medullary Thyroid Carcinoma (MTC) and its implications in systemic immunity and tumoral microenvironment, BP.IC
22/10804-9 - Multiple Endocrine Neoplasia type 2 (MEN 2) and Medullary Thyroid Carcinoma (TCM): new issues in developmental biology, genetics, immunology, epidemiology, mechanisms of disease and clinical management, BP.PD
22/11509-0 - Multiple Endocrine Neoplasia type 2 (MEN 2) and Medullary Thyroid Carcinoma (TCM): new issues in developmental biology, genetics, immunology, epidemiology, mechanisms of disease and clinical management, BP.PD - associated scholarships

Abstract

Multiple Endocrine Neoplasia type 2 (MEN2) is an autosomal dominant genetic syndrome caused by germline mutations in the RET gene and represented by associations of tumors of endocrine origin, among which stands out the high penetration of medullary thyroid carcinoma (MTC). It is a complex and multifaceted disease that requires a multidisciplinary approach. Our group has contributed to the understanding of its genetics, ancestry and clinical management. This proposal - derived from questions arising from previous results of our research, as well as current and innovative questions related to MEN2 and MTC, intends to continue the previous Thematic Projects financed by FAPESP (2006/60402-1 and 2014/06570-6) that have resulted, to date, in 39 original articles and 17 Theses. To this end, we included a set of translational questions about MEN2 and MTC comprising aspects of developmental biology, mechanisms of disease, genetics, immunology, epidemiology, and clinical management, divided into 6 correlated subprojects. Subproject 1 proposes the development of an animal model of MEN2 in the fish Danio rerio ("zebrafish") to understand the tumor mechanism of MTC and to study the effect of new drugs on MTC. Subproject 2 is intended to develop a possible correction of mutations in the RET gene through gene editing by the CRISPR/Cas9 system in MTC cell lines. Subproject 3 aims to understand the systemic immunity and the tumor microenvironment of MTC with the objective to obtain an eventual immunotherapy for this type of tumor. Subproject 4 aims to expand the BrasMEN Consortium (established in the previous project) to other areas of Brazil, in order to obtain a broader view of Brazilian genotypes and phenotypes and, in addition, to answer a new set of questions related to MEN2 clinical management. Subproject 5 advances in the studies of ancestry of RET mutations inside the several Brazilian regions and seeks to compare them with other countries, considering the variations of populations and geographies. Subproject 6 proposes to further characterize the variability and genotype- phenotype correlation found in our cohort of families with MEN2 from BrasMEN cohort and patients with "apparently" sporadic MTC using strategies such as new generation genetic sequencing, bioinformatics, and data analysis in large scale available in public banks.In order to carry out these projects we have organized an experienced team of scientists with international connections. Our goal is to expand information in the area with relevant and original questions, resulting from our translational vision, the experience of our researchers, the structure installed in our laboratories and medical centers, the cohorts of patients and the knowledge accumulated over the past two decades. (AU)

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