HIGH-DENSITY MICROARRAY IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA: EXTENDING PRIMARY PROPOSAL

• Grant number: 15/13152-9
• Support Opportunities: Scholarships abroad - Research Internship - Doctorate
• Effective date (Start): August 09, 2015
• Effective date (End): November 08, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Pedro Rodrigues Sousa da Cruz
• Supervisor: Hakon Hakonarson
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Research place: Children's Hospital of Philadelphia (CHOP), United States
• Associated to the scholarship: 12/06438-5 - HIGH-DENSITY MICROARRAY TECHNIQUE IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA, BP.DR

Abstract

Although sickle cell anemia (SCA) results from the homozygosity of a single mutation in amino acid 6 of the ²-globin locus, this disease presents high phenotypic heterogeneity, so that different patients may have significantly different clinical outcomes. Vascular occlusion occurs systemically, and transient ischemic attacks, stroke and cerebral hemorrhage affect approximately 25% of patients with SCA. Early identification of patients with sickle cell anemia susceptible to cerebrovascular accident (CVA) could reduce the risk, possibly preventing the recurrence of infarcts and potentially reducing their incidence. Thus, we propose to extend the current sample size with already genotyped data in Children's Hospital of Philadelphia, and also improve the analysis (picking best fitting algorithms for probe calling, population correction, association test, ontology analysis and in silico prediction), concluding with validation method decision to be conducted back in the origin institution. Additionally, we will compare North American and Brazilian sickle cell individuals, for better understanding how a mostly African-origin variant behaves in different levels of admix and what is the clinical impact if any.

Scientific publications

(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)

CRUZ, PEDRO R. S.; ANANINA, GALINA; GIL-DA-SILVA-LOPES, VERA LUCIA; SIMIONI, MILENA; MENAA, FARID; BEZERRA, MARCOS A. C.; DOMINGOS, IGOR F.; ARAUJO, ADERSON S.; PELLEGRINO, RENATA; HAKONARSON, HAKON; et al. Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence. SCIENTIFIC REPORTS, v. 9, JUL 26 2019. (08/10596-0, 08/57441-0, 14/00984-3, 12/06438-5, 15/13152-9)