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Multi-user equipment approved in grant 2021/02752-6: Automatic sequencer Seqstudio with 4 capillaries - A34274

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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