INFLAMMATORY RESPONSE AND IMMUNE PROFILE CHARACTERIZATION IN TRISOMY 21: GENE EXPRESSION, CYTOKINES AND IMMUNOPHENOTYPE

• Grant number: 24/20845-0
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: July 01, 2025
• End date: July 31, 2027
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Erika Cristina Pavarino
• Grantee: Nayara Fernanda Hachich
• Host Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil

Abstract

Trisomy 21 (T21), given the third copy of cromosome 21, is marked by an altered gene expression that leads to a chronic inflammatory state and higher predisposal to several diseases. A promising way to minimize the impacts caused by this imbalance is to modulate the expression of genes associated with such diseases. The aim of this project is to characterize the inflammatory response and immune profile of T21 children in relation to gene expression and to identify promising targets and therapeutic compounds for controlling this inflammation. Cytokine, immune cell and gene expression analyses will be performed in children with T21 and euploids. Furthermore, immunological assays with liposaccharides will help to evaluate the response of these variables to a pathogenic stimulus. Finally, the main genes related to the exacerbated inflammatory response in T21 will be used for in silico studies about natural compounds potential on modulating them.