Establishment of a center of genetic and molecular research for clinical challenges

• Grant number: 14/27198-8
• Support type: Research Projects - Thematic Grants
• Duration: June 01, 2016 - May 31, 2020
• Field of knowledge: Biological Sciences - Genetics
• Principal Investigator: João Bosco Pesquero
• Grantee: João Bosco Pesquero
• Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Co-Principal Investigators: Dirceu Solé ; Maria Cristina de Oliveira Izar ; Paulo Cesar Koch Nogueira
• Assoc. researchers: Ana Beatriz Alvarez Perez ; Beatriz Tavares Costa Carvalho ; Eli Mansur ; Francisco Antonio Helfenstein Fonseca ; Houtan Noushmehr ; Luis Felipe Chiaverini Ensina ; Maria Cristina de Oliveira Izar ; Maria Isabel de Moraes Pinto ; Roseli Oselka Saccardo Sarni ; Sonia Hix ; Vânia D'Almeida
• Associated scholarship(s): 17/24857-9 - APOB gene study in patients with familial hypercholesterolemia, BP.IC; 17/00719-6 - The study of genetic and molecular profile of kallikrein-kinin system in familial hypercholesterolemia patients, BP.MS; 16/10319-2 - The study of genetic and molecular profile of renin-angiotensin-aldosterone in familial hypercholesterolemia patients, BP.PD; 15/25494-1 - Development of a gene therapy model for hereditary angioedema based on SERPING1 gene edition by CRISPR-Cas9 system, BP.PD; 14/20965-3 - In silico study of genetic mutations causing hereditary angioedema, BP.PD

Abstract

New models of organization and health practices in Brazil are efforts to improve services and an approach based not only on the disease, but in the health-disease process aiming prevention and quality of life. The emphasis on healthy habits among the population is a milestone, increased motivation to adopt healthy habits, greater interest in having a healthy body, further knowledge on genetic determinants and the appreciation of the benefits of physical activity and exercise to the health and quality of life. The promotion of health has to find proposals to meet emerging issues in our society in a way that has an overview of "microdeterminants" and "macrodeterminants" of the health-disease process. To create new opportunities for health intervention is necessary in the ongoing effort to study the physiology of the human body along with the pursuit of thorough knowledge of the genotype and phenotype interaction. A major goal of human genetics is to understand how changes in the DNA of individuals provide the development of disease, and the biggest challenge is the search for correlations between genotype and phenotype. The approach for molecular genetic studies of complex phenotypes has evolved considerably during the past few years, the next-generation sequencing (NGS) has enabled great advances and contributed greatly to the evolution of medicine. The research in our group for several years has been concentrated on systems like kallikrein kinins and renin angiotensin, primarily using transgenic animals, enzyme kinetics and gene expression in general. All this history has brought us extensive experience in molecular biology. Along the years we have increased our knowledge on genetic diseases and also in the genotype phenotype correlation in physical activity and sports. The fundamental connection between all these projects is the need for deepening genetic studies to bring further progress in the area, since they are all "clinical challenges", due to their complexity or due to the mosaic of events that hinder the genotype and phenotype correlation. These studies are crucial to advances in screening and diagnosis, development of new therapeutic and preventive approaches, supporting quality of life, as well as in the quest for a healthy body. Thus we aimed to establish a center of genetic research, which will be a very important OMIC tool to assist in the conduct of "clinical challenges" as well as for physical and sport performance, representing a new benchmark for genetic and molecular studies in Brazil. (AU)

Scientific publications

(5)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

VERONEZ, CAMILA LOPES; CAMPOS, REGIS ALBUQUERQUE; CONSTANTINO-SILVA, ROSEMEIRE NAVICKAS; NICOLICHT, PRISCILA; PESQUERO, JOAO BOSCO; GRUMACH, ANETE SEVCIOVIC. Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review. FRONTIERS IN MEDICINE, v. 6, APR 17 2019. Web of Science Citations: 0.

VERONEZ, CAMILA LOPES; AABOM, ANNE; MARTIN, RENAN PAULO; FILIPPELLI-SILVA, RAFAEL; GONCALVES, ROZANA FATIMA; NICOLICHT, PRISCILA; MENDES, AGATHA RIBEIRO; DA SILVA, JANE; GUILARTE, MAR; GRUMACH, ANETE SEVCIOVIC; MANSOUR, ELI; BYGUM, ANETTE; PESQUERO, JOAO BOSCO. Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema. FRONTIERS IN MEDICINE, v. 6, FEB 21 2019. Web of Science Citations: 0.

NICOLICHT, PRISCILA; FARIA, DOUGLAS O. S.; MARTINS-SILVA, LEONARDO; MAIA, LUANA S. M.; MORENO, ADRIANA S.; KARLA ARRUDA, L.; MOTTA, ANTONIO A.; GRUMACH, ANETE S.; PESQUERO, JOAO B. Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families. Gene, v. 685, p. 179-185, FEB 15 2019. Web of Science Citations: 0.

VERONEZ, CAMILA LOPES; MORENO, ADRIANA S.; CONSTANTINO-SILVA, ROSEMEIRE NAVICKAS; MAIA, LUANA S. M.; FERRIANI, MARIANA P. L.; CASTRO, FABIO F. M.; VALLE, SOLANGE RODRIGUES; NAKAMURA, VICTOR KOJI; CAGINI, NATHALIA; GONCALVES, ROZANA FATIMA; MANSOUR, ELI; SERPA, FARADIBA SARQUIS; COELHO DIAS, GABRIELA ANDRADE; PICCIRILLO, MIGUEL ALBERTO; TOLEDO, ELIANA; BERNARDES, MARLI DE SOUZA; CICHON, SVEN; STIEBER, CHRISTIANE; ARRUDA, L. KARLA; PESQUERO, JOAO BOSCO; GRUMACH, ANETE SEVCIOVIC. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, v. 6, n. 4, p. 1209+, JUL-AUG 2018. Web of Science Citations: 8.

FELTRAN, LUCIANA S.; VARELA, PATRICIA; SILVA, ELTON DIAS; VERONEZ, CAMILA LOPES; FRANCO, MARIA CARMO; PACHECO FILHO, ALVARO; CAMARGO, MARIA FERNANDA; KOCH NOGUEIRA, PAULO CESAR; PESQUERO, JOAO BOSCO. Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant. TRANSPLANTATION, v. 101, n. 12, p. 2905-2912, DEC 2017. Web of Science Citations: 3.