Study of sexual chromosomes markers in the São Paulo State population: 32 X-InDels...
| Grant number: | 15/22655-4 |
| Support type: | Research Grants - Innovative Research in Small Business - PIPE |
| Duration: | July 01, 2016 - March 31, 2017 |
| Field of knowledge: | Biological Sciences - Genetics |
| Principal Investigator: | Ricardo Di Lazzaro Filho |
| Grantee: | Ricardo Di Lazzaro Filho |
| Company: | DB Genética Serviços Laboratoriais Ltda. - ME |
| City: | São Paulo |
| Co-Principal Investigators: | André Ribeiro |
| Assoc. researchers: | Ayling Martins Ng ; Carolina Watts ; Eduardo Leal Rodrigues ; Humberto Vicente Cezar Marcolino ; Israel Bendit ; Rodrigo Oliveira Odone |
Abstract
Advances in genetic analysis technology through free fetal DNA (fetal cell-free DNA - cffDNA) and the development of bioinformatics tools have facilitated non-invasive prenatal diagnostic (or test - NIPD or NIPT) and enabling the determination of sex, paternity and diagnosis of various chromosomal before birth. In this context, the NIPDs have gain importance, representing a safe alternative to current invasive tests for paternity. Despite its great clinical and economic potential, the introduction of NIPTs in medical practice in Brazil is still quite slow. While countries like the US and China routinely perform these exams, in Brazil this service is still restricted to a few laboratories whose outsourcing of genetic testing to foreign companies makes the examination cost impracticable in the public health service. The objective of this project is to develop a low-cost noninvasive prenatal paternity test, based on the presence of cffDNA in maternal blood, and then market it to patients and public and private health services. The methodology used will be the comparative analysis of indels variants between the fetus and alleged father. For development of the test, will be selected the main loci known to be associated with paternal inheritance, based on previous Brazilian studies. We chose this method of genetic analysis due to the technical innovation, which, once implemented in the market, can generate a paternity NIPT cost reduction, and propel the scientific research on the subject. The purpose of this first phase is to test the technical and scientific feasibility of developing the test, comparing the results obtained with commercially available foreign exams and new emerging techniques of analysis of cffDNA. In later stages, the test will be validated and its adaptation to the world market and the country's health needs. Thus, the service developed will have a real impact in the context of prenatal diagnostics, developing this technic in the country and making such an examination mode viable so that in the future may be offered in the public service in an unprecedented manner. (AU)