Improvement and innovation applied to the test newborn screening for congenital immunodeficiencies

• Grant number: 16/00595-2
• Support Opportunities: Research Grants - Innovative Research in Small Business - PIPE
• Start date: September 01, 2016
• End date: May 31, 2017
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Edgar Borges de Oliveira Junior
• Grantee: Edgar Borges de Oliveira Junior
• Company: Immunogenic Assessoria e Diagnóstico em Saúde Ltda - EPP
• Associated research grant(s): 17/10089-0 - Improvement and innovations applied to the detection and monitoring of immunopathologies and cancer, AP.PIPE
• Associated scholarship(s): 16/17533-0 - Improvement and innovation applied to the test newborn screening for congenital immunodeficiencies, BP.PIPE

Abstract

In the scope of our business activities, we aim to research and development of diagnostic tests aimed at diseases of the immune system: allergies, congenital immunodeficiency and autoimmune diseases. In this project, we propose the improvement of diagnostic tests for the neonatal period, allowing for early detection of congenital immunodeficiency, focusing on severe immunodeficiency (SCID) and agammaglobulinemia. This is a list of 98 serious diseases, tragic outcome, which do not have clinical evidence to the diagnosis at birth, and therefore require the establishment of diagnostic tools for early detection, treatment and cure through transplantation of hematopoietic stem cells, preventing sequelae, early death and high social cost. Such diseases shall meet all requirements for newborn screening, according to international standards. We propose to develop additional tools to the technology of T cell Receptor Excision Circles (TRECs), to detect congenital agamaglobulinemias and other defects inherent in B cells, and T cell defects, as detected by TRECs. The literature documents the application of the Kappa test deleting Excision Circles (KRECs) for this purpose. However, inaccuracies reveals to large-scale application. We propose to review and refine tests to detect accurately and reproducibly the KRECs and develop other totally innovative, to quantify the Lambda Excision Circles (LECs - as determined by our company). In collaboration with the APAE-SP, we will have access to the filter paper samples used for routine newborn screening tests, of which we get one perforation of 3.2 mm in diameter. Accordingly, we retrieve DNA and using probes and probes known to be developed by our company, we will amplify TRECs, and KRECs LECs for diagnosing the health or illness. At this stage we will test the technical feasibility of the proposed test and compare to pre-existing in the market. (AU)